Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 3 183388949 183388949 + Missense_Mutation SNP G G T TCGA-OR-A5L5-01A-11D-A29I-10 TCGA-OR-A5L5-10A-01D-A29L-10 g.chr3:183388949G>T c.1352G>T c.(1351-1353)aGc>aTc p.S451I BLCA 3 183368417 183368417 + Missense_Mutation SNP C C G TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr3:183368417C>G c.273C>G c.(271-273)ttC>ttG p.F91L BLCA 3 183368537 183368537 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 g.chr3:183368537C>T c.393C>T c.(391-393)atC>atT p.I131I BLCA 3 183368873 183368873 + Silent SNP G G C TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 g.chr3:183368873G>C c.729G>C c.(727-729)ctG>ctC p.L243L BLCA 3 183368878 183368878 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 g.chr3:183368878G>A c.734G>A c.(733-735)aGa>aAa p.R245K BLCA 3 183369003 183369003 + Missense_Mutation SNP G G A TCGA-CU-A3QU-01A-11D-A22Z-08 TCGA-CU-A3QU-10B-01D-A22Z-08 g.chr3:183369003G>A c.859G>A c.(859-861)Gaa>Aaa p.E287K BLCA 3 183382715 183382715 + Missense_Mutation SNP G G C TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr3:183382715G>C c.1112G>C c.(1111-1113)aGa>aCa p.R371T BLCA 3 183388884 183388884 + Silent SNP C C T TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 g.chr3:183388884C>T c.1287C>T c.(1285-1287)tcC>tcT p.S429S BLCA 3 183388990 183388990 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr3:183388990G>T c.1393G>T c.(1393-1395)Gat>Tat p.D465Y BLCA 3 183390112 183390112 + Missense_Mutation SNP C C G TCGA-DK-AA6X-01A-12D-A42E-08 TCGA-DK-AA6X-10A-01D-A42H-08 g.chr3:183390112C>G c.1442C>G c.(1441-1443)tCt>tGt p.S481C BLCA 3 183390182 183390182 + Silent SNP C C A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr3:183390182C>A c.1512C>A c.(1510-1512)atC>atA p.I504I BLCA 3 183396981 183396981 + Silent SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr3:183396981T>C c.1710T>C c.(1708-1710)agT>agC p.S570S BRCA 3 183368322 183368322 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:183368322C>T c.178C>T c.(178-180)Cgt>Tgt p.R60C BRCA 3 183368615 183368615 + Missense_Mutation SNP G G C TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 g.chr3:183368615G>C c.471G>C c.(469-471)aaG>aaC p.K157N BRCA 3 183368623 183368623 + Missense_Mutation SNP A A C TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 g.chr3:183368623A>C c.479A>C c.(478-480)gAg>gCg p.E160A BRCA 3 183381421 183381421 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:183381421C>G c.1096C>G c.(1096-1098)Ctt>Gtt p.L366V BRCA 3 183382765 183382765 + Missense_Mutation SNP A A G TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 g.chr3:183382765A>G c.1162A>G c.(1162-1164)Atc>Gtc p.I388V BRCA 3 183390243 183390243 + Missense_Mutation SNP A A G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 g.chr3:183390243A>G c.1573A>G c.(1573-1575)Atg>Gtg p.M525V COAD 3 183368215 183368215 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:183368215G>A c.71G>A c.(70-72)cGa>cAa p.R24Q COAD 3 183368259 183368259 + Frame_Shift_Del DEL T T - TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr3:183368259delT c.115delT c.(115-117)tttfs p.F40fs COAD 3 183368322 183368322 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:183368322C>T c.178C>T c.(178-180)Cgt>Tgt p.R60C COAD 3 183368437 183368437 + Missense_Mutation SNP A A G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:183368437A>G c.293A>G c.(292-294)gAc>gGc p.D98G COAD 3 183368842 183368842 + Missense_Mutation SNP T T A TCGA-AA-A02H-01A-01W-A00E-09 TCGA-AA-A02H-10A-01W-A00E-09 g.chr3:183368842T>A c.698T>A c.(697-699)gTc>gAc p.V233D COAD 3 183368863 183368863 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:183368863C>T c.719C>T c.(718-720)gCc>gTc p.A240V COAD 3 183388920 183388920 + Silent SNP G G A TCGA-AA-3666-01A-02W-0900-09 TCGA-AA-3666-10A-01W-0900-09 g.chr3:183388920G>A c.1323G>A c.(1321-1323)aaG>aaA p.K441K COAD 3 183388934 183388934 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:183388934C>A c.1337C>A c.(1336-1338)tCt>tAt p.S446Y COAD 3 183390266 183390266 + Silent SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr3:183390266C>T c.1596C>T c.(1594-1596)agC>agT p.S532S COADREAD 3 183368215 183368215 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:183368215G>A c.71G>A c.(70-72)cGa>cAa p.R24Q COADREAD 3 183368259 183368259 + Frame_Shift_Del DEL T T - TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr3:183368259delT c.115delT c.(115-117)tttfs p.F40fs COADREAD 3 183368322 183368322 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:183368322C>T c.178C>T c.(178-180)Cgt>Tgt p.R60C COADREAD 3 183368437 183368437 + Missense_Mutation SNP A A G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:183368437A>G c.293A>G c.(292-294)gAc>gGc p.D98G COADREAD 3 183368842 183368842 + Missense_Mutation SNP T T A TCGA-AA-A02H-01A-01W-A00E-09 TCGA-AA-A02H-10A-01W-A00E-09 g.chr3:183368842T>A c.698T>A c.(697-699)gTc>gAc p.V233D COADREAD 3 183368863 183368863 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:183368863C>T c.719C>T c.(718-720)gCc>gTc p.A240V COADREAD 3 183368865 183368865 + Missense_Mutation SNP G G A TCGA-F5-6811-01A-11D-1826-10 TCGA-F5-6811-10A-01D-1826-10 g.chr3:183368865G>A c.721G>A c.(721-723)Gtt>Att p.V241I COADREAD 3 183388920 183388920 + Silent SNP G G A TCGA-AA-3666-01A-02W-0900-09 TCGA-AA-3666-10A-01W-0900-09 g.chr3:183388920G>A c.1323G>A c.(1321-1323)aaG>aaA p.K441K COADREAD 3 183388934 183388934 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:183388934C>A c.1337C>A c.(1336-1338)tCt>tAt p.S446Y COADREAD 3 183390266 183390266 + Silent SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr3:183390266C>T c.1596C>T c.(1594-1596)agC>agT p.S532S ESCA 3 183381293 183381293 + Missense_Mutation SNP G G A TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 g.chr3:183381293G>A c.968G>A c.(967-969)cGa>cAa p.R323Q ESCA 3 183381296 183381296 + Missense_Mutation SNP T T C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 g.chr3:183381296T>C c.971T>C c.(970-972)gTt>gCt p.V324A ESCA 3 183396909 183396909 + Missense_Mutation SNP A A G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 g.chr3:183396909A>G c.1638A>G c.(1636-1638)atA>atG p.I546M GBMLGG 3 183368322 183368322 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:183368322C>T c.178C>T c.(178-180)Cgt>Tgt p.R60C GBMLGG 3 183381373 183381373 + Nonsense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:183381373G>T c.1048G>T c.(1048-1050)Gaa>Taa p.E350* HNSC 3 183368194 183368194 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr3:183368194G>A c.50G>A c.(49-51)cGt>cAt p.R17H HNSC 3 183368215 183368215 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 g.chr3:183368215G>A c.71G>A c.(70-72)cGa>cAa p.R24Q HNSC 3 183368285 183368285 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr3:183368285C>T c.141C>T c.(139-141)tcC>tcT p.S47S HNSC 3 183368442 183368442 + Missense_Mutation SNP A A G TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 g.chr3:183368442A>G c.298A>G c.(298-300)Agg>Ggg p.R100G HNSC 3 183368452 183368452 + Missense_Mutation SNP G G A TCGA-CV-6941-01A-11D-1912-08 TCGA-CV-6941-10A-01D-1912-08 g.chr3:183368452G>A c.308G>A c.(307-309)cGa>cAa p.R103Q HNSC 3 183368865 183368865 + Missense_Mutation SNP G G A TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 g.chr3:183368865G>A c.721G>A c.(721-723)Gtt>Att p.V241I HNSC 3 183369021 183369021 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 g.chr3:183369021A>G c.877A>G c.(877-879)Ata>Gta p.I293V HNSC 3 183381264 183381264 + Silent SNP G G A TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 g.chr3:183381264G>A c.939G>A c.(937-939)gaG>gaA p.E313E HNSC 3 183381346 183381346 + Missense_Mutation SNP G G C TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 g.chr3:183381346G>C c.1021G>C c.(1021-1023)Gaa>Caa p.E341Q HNSC 3 183381386 183381386 + Nonsense_Mutation SNP C C G TCGA-CV-A45U-01A-12D-A24D-08 TCGA-CV-A45U-10A-01D-A24F-08 g.chr3:183381386C>G c.1061C>G c.(1060-1062)tCa>tGa p.S354* KIPAN 3 183368567 183368567 + Missense_Mutation SNP G G C TCGA-BP-4352-01A-01D-1366-10 TCGA-BP-4352-11A-01D-1366-10 g.chr3:183368567G>C c.423G>C c.(421-423)gaG>gaC p.E141D KIPAN 3 183381404 183381404 + Missense_Mutation SNP C C A TCGA-HE-A5NK-01A-11D-A26P-10 TCGA-HE-A5NK-10A-01D-A26P-10 g.chr3:183381404C>A c.1079C>A c.(1078-1080)gCt>gAt p.A360D KIPAN 3 183381405 183381407 + In_Frame_Del DEL TCT TCT - TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 g.chr3:183381405_183381407delTCT c.1080_1082delTCT c.(1078-1083)gctcta>gca p.L361del KIPAN 3 183390233 183390233 + Missense_Mutation SNP A A C TCGA-CW-5585-01A-01D-1534-10 TCGA-CW-5585-11A-01D-1535-10 g.chr3:183390233A>C c.1563A>C c.(1561-1563)gaA>gaC p.E521D KIRC 3 183368567 183368567 + Missense_Mutation SNP G G C TCGA-BP-4352-01A-01D-1366-10 TCGA-BP-4352-11A-01D-1366-10 g.chr3:183368567G>C c.423G>C c.(421-423)gaG>gaC p.E141D KIRC 3 183381405 183381407 + In_Frame_Del DEL TCT TCT - TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 g.chr3:183381405_183381407delTCT c.1080_1082delTCT c.(1078-1083)gctcta>gca p.L361del KIRC 3 183390233 183390233 + Missense_Mutation SNP A A C TCGA-CW-5585-01A-01D-1534-10 TCGA-CW-5585-11A-01D-1535-10 g.chr3:183390233A>C c.1563A>C c.(1561-1563)gaA>gaC p.E521D KIRP 3 183381404 183381404 + Missense_Mutation SNP C C A TCGA-HE-A5NK-01A-11D-A26P-10 TCGA-HE-A5NK-10A-01D-A26P-10 g.chr3:183381404C>A c.1079C>A c.(1078-1080)gCt>gAt p.A360D LGG 3 183368322 183368322 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:183368322C>T c.178C>T c.(178-180)Cgt>Tgt p.R60C LGG 3 183381373 183381373 + Nonsense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:183381373G>T c.1048G>T c.(1048-1050)Gaa>Taa p.E350* LIHC 3 183381339 183381339 + Silent SNP A A T TCGA-G3-A7M5-01A-11D-A33Q-10 TCGA-G3-A7M5-10A-01D-A33Q-10 g.chr3:183381339A>T c.1014A>T c.(1012-1014)gtA>gtT p.V338V LIHC 3 183381420 183381420 + Silent SNP T T C TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr3:183381420T>C c.1095T>C c.(1093-1095)atT>atC p.I365I LUAD 3 183368276 183368276 + Silent SNP A A T TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr3:183368276A>T c.132A>T c.(130-132)tcA>tcT p.S44S LUAD 3 183368813 183368813 + Missense_Mutation SNP T T G TCGA-55-6975-01A-11D-1945-08 TCGA-55-6975-11A-01D-1945-08 g.chr3:183368813T>G c.669T>G c.(667-669)atT>atG p.I223M LUAD 3 183368814 183368814 + Missense_Mutation SNP G G C TCGA-78-8660-01A-11D-2393-08 TCGA-78-8660-10A-01D-2393-08 g.chr3:183368814G>C c.670G>C c.(670-672)Ggt>Cgt p.G224R LUAD 3 183369006 183369006 + Missense_Mutation SNP G G A TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr3:183369006G>A c.862G>A c.(862-864)Gca>Aca p.A288T LUAD 3 183382794 183382794 + Missense_Mutation SNP A A T TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr3:183382794A>T c.1191A>T c.(1189-1191)agA>agT p.R397S LUAD 3 183390119 183390119 + Silent SNP A A T TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr3:183390119A>T c.1449A>T c.(1447-1449)ctA>ctT p.L483L LUAD 3 183396891 183396891 + Silent SNP T T A TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr3:183396891T>A c.1620T>A c.(1618-1620)tcT>tcA p.S540S LUAD 3 183397003 183397003 + Missense_Mutation SNP A A G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 g.chr3:183397003A>G c.1732A>G c.(1732-1734)Atg>Gtg p.M578V LUSC 3 183368731 183368731 + Missense_Mutation SNP A A T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 g.chr3:183368731A>T c.587A>T c.(586-588)gAg>gTg p.E196V LUSC 3 183368735 183368735 + Silent SNP T T C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 g.chr3:183368735T>C c.591T>C c.(589-591)gaT>gaC p.D197D LUSC 3 183382716 183382716 + Silent SNP A A G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 g.chr3:183382716A>G c.1113A>G c.(1111-1113)agA>agG p.R371R OV 3 183368847 183368847 + Missense_Mutation SNP C C T TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 g.chr3:183368847C>T c.703C>T c.(703-705)Cgt>Tgt p.R235C PAAD 3 183368717 183368717 + Silent SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 g.chr3:183368717G>A c.573G>A c.(571-573)gcG>gcA p.A191A PAAD 3 183388894 183388894 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr3:183388894C>A c.1297C>A c.(1297-1299)Cga>Aga p.R433R PAAD 3 183390145 183390145 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:183390145A>G c.1475A>G c.(1474-1476)aAa>aGa p.K492R PRAD 3 183368576 183368576 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:183368576C>T c.432C>T c.(430-432)agC>agT p.S144S PRAD 3 183368748 183368748 + Missense_Mutation SNP G G A TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 g.chr3:183368748G>A c.604G>A c.(604-606)Gaa>Aaa p.E202K READ 3 183368865 183368865 + Missense_Mutation SNP G G A TCGA-F5-6811-01A-11D-1826-10 TCGA-F5-6811-10A-01D-1826-10 g.chr3:183368865G>A c.721G>A c.(721-723)Gtt>Att p.V241I SKCM 3 183368286 183368286 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 g.chr3:183368286C>T c.142C>T c.(142-144)Cat>Tat p.H48Y SKCM 3 183368597 183368597 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr3:183368597C>T c.453C>T c.(451-453)ctC>ctT p.L151L SKCM 3 183368598 183368598 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr3:183368598C>T c.454C>T c.(454-456)Cgt>Tgt p.R152C SKCM 3 183368779 183368779 + Missense_Mutation SNP T T C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 g.chr3:183368779T>C c.635T>C c.(634-636)cTt>cCt p.L212P SKCM 3 183381248 183381248 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr3:183381248C>T c.923C>T c.(922-924)tCc>tTc p.S308F SKCM 3 183381293 183381293 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr3:183381293G>A c.968G>A c.(967-969)cGa>cAa p.R323Q SKCM 3 183381296 183381296 + Missense_Mutation SNP T T C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr3:183381296T>C c.971T>C c.(970-972)gTt>gCt p.V324A SKCM 3 183381313 183381313 + Missense_Mutation SNP C C T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr3:183381313C>T c.988C>T c.(988-990)Cca>Tca p.P330S SKCM 3 183381334 183381334 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:183381334C>T c.1009C>T c.(1009-1011)Cct>Tct p.P337S SKCM 3 183382784 183382784 + Missense_Mutation SNP A A T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 g.chr3:183382784A>T c.1181A>T c.(1180-1182)aAt>aTt p.N394I SKCM 3 183382805 183382805 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:183382805A>C c.1202A>C c.(1201-1203)aAa>aCa p.K401T SKCM 3 183388985 183388985 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 g.chr3:183388985C>T c.1388C>T c.(1387-1389)cCt>cTt p.P463L SKCM 3 183390139 183390139 + Frame_Shift_Del DEL T T - TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chr3:183390139delT c.1469delT c.(1468-1470)attfs p.I490fs SKCM 3 183390263 183390263 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr3:183390263C>T c.1593C>T c.(1591-1593)ttC>ttT p.F531F SKCM 3 183396934 183396934 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:183396934A>C c.1663A>C c.(1663-1665)Aat>Cat p.N555H SKCM 3 183397024 183397024 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 g.chr3:183397024C>T c.1753C>T c.(1753-1755)Cat>Tat p.H585Y

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 3 183368537 183368537 single base substitution C T downstream_gene_variant BLCA-US 3 183368537 183368537 single base substitution C T intron_variant BLCA-US 3 183368537 183368537 single base substitution C T synonymous_variant I131I 393C>T BLCA-US 3 183368873 183368873 single base substitution G C downstream_gene_variant BLCA-US 3 183368873 183368873 single base substitution G C intron_variant BLCA-US 3 183368873 183368873 single base substitution G C synonymous_variant L243L 729G>C BLCA-US 3 183368878 183368878 single base substitution G A downstream_gene_variant BLCA-US 3 183368878 183368878 single base substitution G A intron_variant BLCA-US 3 183368878 183368878 single base substitution G A missense_variant R245K 734G>A BLCA-US 3 183369003 183369003 single base substitution G A downstream_gene_variant BLCA-US 3 183369003 183369003 single base substitution G A intron_variant BLCA-US 3 183369003 183369003 single base substitution G A missense_variant E287K 859G>A BRCA-EU 3 183348613 183348613 single base substitution C G upstream_gene_variant BRCA-EU 3 183348741 183348741 single base substitution G A upstream_gene_variant BRCA-EU 3 183348931 183348931 single base substitution C G upstream_gene_variant BRCA-EU 3 183348945 183348945 single base substitution G A upstream_gene_variant BRCA-EU 3 183350263 183350263 single base substitution A C upstream_gene_variant BRCA-EU 3 183350333 183350333 single base substitution C T upstream_gene_variant BRCA-EU 3 183351223 183351223 single base substitution G A upstream_gene_variant BRCA-EU 3 183351716 183351716 single base substitution T C upstream_gene_variant BRCA-EU 3 183351786 183351786 insertion of <=200bp - ATG upstream_gene_variant BRCA-EU 3 183352469 183352469 single base substitution A C upstream_gene_variant BRCA-EU 3 183352924 183352924 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 183353455 183353455 single base substitution G T 5_prime_UTR_variant BRCA-EU 3 183353455 183353455 single base substitution G T exon_variant BRCA-EU 3 183353455 183353455 single base substitution G T upstream_gene_variant BRCA-EU 3 183354217 183354217 single base substitution C A exon_variant BRCA-EU 3 183354217 183354217 single base substitution C A intron_variant BRCA-EU 3 183354217 183354217 single base substitution C A upstream_gene_variant BRCA-EU 3 183354244 183354244 single base substitution C G downstream_gene_variant BRCA-EU 3 183354244 183354244 single base substitution C G intron_variant BRCA-EU 3 183354244 183354244 single base substitution C G upstream_gene_variant BRCA-EU 3 183354968 183354968 single base substitution T C downstream_gene_variant BRCA-EU 3 183354968 183354968 single base substitution T C intron_variant BRCA-EU 3 183356057 183356057 single base substitution T G downstream_gene_variant BRCA-EU 3 183356057 183356057 single base substitution T G intron_variant BRCA-EU 3 183356128 183356128 single base substitution C T downstream_gene_variant BRCA-EU 3 183356128 183356128 single base substitution C T intron_variant BRCA-EU 3 183358121 183358121 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 183358121 183358121 deletion of <=200bp T - intron_variant BRCA-EU 3 183358657 183358657 single base substitution G T downstream_gene_variant BRCA-EU 3 183358657 183358657 single base substitution G T intron_variant BRCA-EU 3 183358846 183358846 single base substitution G C downstream_gene_variant BRCA-EU 3 183358846 183358846 single base substitution G C intron_variant BRCA-EU 3 183360145 183360145 single base substitution G A intron_variant BRCA-EU 3 183360554 183360554 single base substitution C T intron_variant BRCA-EU 3 183363377 183363377 insertion of <=200bp - T downstream_gene_variant BRCA-EU 3 183363377 183363377 insertion of <=200bp - T intron_variant BRCA-EU 3 183363377 183363377 insertion of <=200bp - T upstream_gene_variant BRCA-EU 3 183364754 183364754 single base substitution C T downstream_gene_variant BRCA-EU 3 183364754 183364754 single base substitution C T intron_variant BRCA-EU 3 183364754 183364754 single base substitution C T upstream_gene_variant BRCA-EU 3 183366408 183366408 single base substitution C T intron_variant BRCA-EU 3 183366408 183366408 single base substitution C T upstream_gene_variant BRCA-EU 3 183367289 183367289 single base substitution T G intron_variant BRCA-EU 3 183367289 183367289 single base substitution T G upstream_gene_variant BRCA-EU 3 183367792 183367792 single base substitution C G intron_variant BRCA-EU 3 183367792 183367792 single base substitution C G upstream_gene_variant BRCA-EU 3 183368347 183368347 single base substitution T C downstream_gene_variant BRCA-EU 3 183368347 183368347 single base substitution T C intron_variant BRCA-EU 3 183368347 183368347 single base substitution T C missense_variant V68A 203T>C BRCA-EU 3 183368684 183368684 single base substitution C G downstream_gene_variant BRCA-EU 3 183368684 183368684 single base substitution C G intron_variant BRCA-EU 3 183368684 183368684 single base substitution C G synonymous_variant L180L 540C>G BRCA-EU 3 183370222 183370222 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 183370222 183370222 deletion of <=200bp T - intron_variant BRCA-EU 3 183371583 183371583 single base substitution G C downstream_gene_variant BRCA-EU 3 183371583 183371583 single base substitution G C intron_variant BRCA-EU 3 183371671 183371671 single base substitution C G downstream_gene_variant BRCA-EU 3 183371671 183371671 single base substitution C G intron_variant BRCA-EU 3 183371735 183371735 single base substitution A G downstream_gene_variant BRCA-EU 3 183371735 183371735 single base substitution A G intron_variant BRCA-EU 3 183373005 183373005 single base substitution G C downstream_gene_variant BRCA-EU 3 183373005 183373005 single base substitution G C intron_variant BRCA-EU 3 183373198 183373198 single base substitution G C downstream_gene_variant BRCA-EU 3 183373198 183373198 single base substitution G C intron_variant BRCA-EU 3 183377862 183377862 single base substitution A C intron_variant BRCA-EU 3 183377862 183377862 single base substitution A C upstream_gene_variant BRCA-EU 3 183377994 183377994 single base substitution G A intron_variant BRCA-EU 3 183377994 183377994 single base substitution G A upstream_gene_variant BRCA-EU 3 183380530 183380530 single base substitution G C intron_variant BRCA-EU 3 183380530 183380530 single base substitution G C upstream_gene_variant BRCA-EU 3 183382508 183382508 single base substitution A G intron_variant BRCA-EU 3 183383258 183383258 single base substitution G C intron_variant BRCA-EU 3 183384366 183384366 single base substitution T G intron_variant BRCA-EU 3 183384654 183384654 single base substitution C G intron_variant BRCA-EU 3 183384800 183384800 single base substitution A G intron_variant BRCA-EU 3 183385071 183385071 single base substitution G C intron_variant BRCA-EU 3 183387769 183387769 single base substitution C T intron_variant BRCA-EU 3 183388476 183388476 single base substitution G T intron_variant BRCA-EU 3 183388803 183388803 single base substitution C T intron_variant BRCA-EU 3 183391652 183391652 single base substitution A G downstream_gene_variant BRCA-EU 3 183391652 183391652 single base substitution A G intron_variant BRCA-EU 3 183392298 183392298 single base substitution A G downstream_gene_variant BRCA-EU 3 183392298 183392298 single base substitution A G intron_variant BRCA-EU 3 183393853 183393853 single base substitution G C downstream_gene_variant BRCA-EU 3 183393853 183393853 single base substitution G C intron_variant BRCA-EU 3 183394507 183394507 single base substitution G C downstream_gene_variant BRCA-EU 3 183394507 183394507 single base substitution G C intron_variant BRCA-EU 3 183397219 183397219 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 183397312 183397312 single base substitution G T 3_prime_UTR_variant BRCA-EU 3 183397312 183397312 single base substitution G T downstream_gene_variant BRCA-EU 3 183397888 183397888 single base substitution T A 3_prime_UTR_variant BRCA-EU 3 183397888 183397888 single base substitution T A downstream_gene_variant BRCA-EU 3 183398084 183398084 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 183398084 183398084 single base substitution G A downstream_gene_variant BRCA-EU 3 183399338 183399338 single base substitution A C 3_prime_UTR_variant BRCA-EU 3 183399338 183399338 single base substitution A C downstream_gene_variant BRCA-EU 3 183399868 183399868 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 183399868 183399868 single base substitution G A downstream_gene_variant BRCA-EU 3 183399902 183399902 single base substitution A C 3_prime_UTR_variant BRCA-EU 3 183399902 183399902 single base substitution A C downstream_gene_variant BRCA-EU 3 183401641 183401641 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 183401641 183401641 single base substitution G C downstream_gene_variant BRCA-EU 3 183403275 183403275 single base substitution A C downstream_gene_variant BRCA-EU 3 183403783 183403783 single base substitution A G downstream_gene_variant BRCA-EU 3 183404360 183404360 single base substitution G C downstream_gene_variant BRCA-EU 3 183404391 183404391 single base substitution C T downstream_gene_variant BRCA-EU 3 183404513 183404513 single base substitution G C downstream_gene_variant BRCA-EU 3 183405825 183405825 single base substitution C G downstream_gene_variant BRCA-EU 3 183406947 183406947 single base substitution C G downstream_gene_variant BRCA-FR 3 183354554 183354554 single base substitution C G downstream_gene_variant BRCA-FR 3 183354554 183354554 single base substitution C G intron_variant BRCA-FR 3 183381832 183381832 single base substitution A C intron_variant BRCA-FR 3 183381832 183381832 single base substitution A C upstream_gene_variant BRCA-FR 3 183383266 183383266 single base substitution C T intron_variant BRCA-FR 3 183393566 183393566 single base substitution A T downstream_gene_variant BRCA-FR 3 183393566 183393566 single base substitution A T intron_variant BRCA-FR 3 183397219 183397219 single base substitution C T 3_prime_UTR_variant BRCA-FR 3 183399868 183399868 single base substitution G A 3_prime_UTR_variant BRCA-FR 3 183399868 183399868 single base substitution G A downstream_gene_variant BRCA-FR 3 183399902 183399902 single base substitution A C 3_prime_UTR_variant BRCA-FR 3 183399902 183399902 single base substitution A C downstream_gene_variant BRCA-FR 3 183401550 183401550 single base substitution T G 3_prime_UTR_variant BRCA-FR 3 183401550 183401550 single base substitution T G downstream_gene_variant BRCA-FR 3 183404513 183404513 single base substitution G C downstream_gene_variant BRCA-UK 3 183368684 183368684 single base substitution C G downstream_gene_variant BRCA-UK 3 183368684 183368684 single base substitution C G intron_variant BRCA-UK 3 183368684 183368684 single base substitution C G synonymous_variant L180L 540C>G BRCA-UK 3 183368952 183368952 single base substitution G C downstream_gene_variant BRCA-UK 3 183368952 183368952 single base substitution G C intron_variant BRCA-UK 3 183368952 183368952 single base substitution G C missense_variant E270Q 808G>C BRCA-UK 3 183384654 183384654 single base substitution C G intron_variant BRCA-UK 3 183388803 183388803 single base substitution C T intron_variant BRCA-UK 3 183406742 183406742 single base substitution C T downstream_gene_variant BRCA-US 3 183368322 183368322 single base substitution C T intron_variant BRCA-US 3 183368322 183368322 single base substitution C T missense_variant R60C 178C>T BRCA-US 3 183368623 183368623 single base substitution A C downstream_gene_variant BRCA-US 3 183368623 183368623 single base substitution A C intron_variant BRCA-US 3 183368623 183368623 single base substitution A C missense_variant E160A 479A>C BRCA-US 3 183381421 183381421 single base substitution C G exon_variant BRCA-US 3 183381421 183381421 single base substitution C G missense_variant L366V 1096C>G BRCA-US 3 183381421 183381421 single base substitution C G upstream_gene_variant BRCA-US 3 183382765 183382765 single base substitution A G exon_variant BRCA-US 3 183382765 183382765 single base substitution A G missense_variant I388V 1162A>G BRCA-US 3 183390243 183390243 single base substitution A G downstream_gene_variant BRCA-US 3 183390243 183390243 single base substitution A G exon_variant BRCA-US 3 183390243 183390243 single base substitution A G missense_variant M525V 1573A>G BTCA-JP 3 183368214 183368214 single base substitution C T intron_variant BTCA-JP 3 183368214 183368214 single base substitution C T stop_gained R24* 70C>T BTCA-JP 3 183368322 183368322 single base substitution C T intron_variant BTCA-JP 3 183368322 183368322 single base substitution C T missense_variant R60C 178C>T BTCA-JP 3 183368841 183368841 single base substitution G A downstream_gene_variant BTCA-JP 3 183368841 183368841 single base substitution G A intron_variant BTCA-JP 3 183368841 183368841 single base substitution G A missense_variant V233I 697G>A BTCA-JP 3 183368847 183368847 single base substitution C T downstream_gene_variant BTCA-JP 3 183368847 183368847 single base substitution C T intron_variant BTCA-JP 3 183368847 183368847 single base substitution C T missense_variant R235C 703C>T BTCA-JP 3 183381426 183381426 single base substitution T G exon_variant BTCA-JP 3 183381426 183381426 single base substitution T G synonymous_variant V367V 1101T>G BTCA-JP 3 183381426 183381426 single base substitution T G upstream_gene_variant BTCA-JP 3 183388848 183388848 single base substitution G C exon_variant BTCA-JP 3 183388848 183388848 single base substitution G C synonymous_variant G417G 1251G>C BTCA-JP 3 183389014 183389014 single base substitution A G downstream_gene_variant BTCA-JP 3 183389014 183389014 single base substitution A G splice_region_variant CLLE-ES 3 183366668 183366668 single base substitution G A intron_variant CLLE-ES 3 183366668 183366668 single base substitution G A upstream_gene_variant CLLE-ES 3 183370305 183370305 single base substitution G T downstream_gene_variant CLLE-ES 3 183370305 183370305 single base substitution G T intron_variant CLLE-ES 3 183375414 183375414 single base substitution C T intron_variant CLLE-ES 3 183385467 183385467 single base substitution G A intron_variant CLLE-ES 3 183391539 183391539 single base substitution C T downstream_gene_variant CLLE-ES 3 183391539 183391539 single base substitution C T intron_variant CLLE-ES 3 183400856 183400856 single base substitution C T 3_prime_UTR_variant CLLE-ES 3 183400856 183400856 single base substitution C T downstream_gene_variant CLLE-ES 3 183404178 183404178 single base substitution T A downstream_gene_variant CLLE-ES 3 183405551 183405551 single base substitution G C downstream_gene_variant COAD-US 3 183368216 183368216 single base substitution A T intron_variant COAD-US 3 183368216 183368216 single base substitution A T synonymous_variant R24R 72A>T COAD-US 3 183368259 183368259 deletion of <=200bp T - frameshift_variant F39 COAD-US 3 183368259 183368259 deletion of <=200bp T - intron_variant COAD-US 3 183368863 183368863 single base substitution C T downstream_gene_variant COAD-US 3 183368863 183368863 single base substitution C T intron_variant COAD-US 3 183368863 183368863 single base substitution C T missense_variant A240V 719C>T COAD-US 3 183368891 183368891 single base substitution C T downstream_gene_variant COAD-US 3 183368891 183368891 single base substitution C T intron_variant COAD-US 3 183368891 183368891 single base substitution C T synonymous_variant H249H 747C>T COAD-US 3 183388934 183388934 single base substitution C A downstream_gene_variant COAD-US 3 183388934 183388934 single base substitution C A exon_variant COAD-US 3 183388934 183388934 single base substitution C A missense_variant S446Y 1337C>A COAD-US 3 183390266 183390266 single base substitution C T downstream_gene_variant COAD-US 3 183390266 183390266 single base substitution C T exon_variant COAD-US 3 183390266 183390266 single base substitution C T synonymous_variant S532S 1596C>T COCA-CN 3 183368751 183368751 single base substitution G T downstream_gene_variant COCA-CN 3 183368751 183368751 single base substitution G T intron_variant COCA-CN 3 183368751 183368751 single base substitution G T stop_gained E203* 607G>T COCA-CN 3 183381404 183381404 single base substitution C T exon_variant COCA-CN 3 183381404 183381404 single base substitution C T missense_variant A360V 1079C>T COCA-CN 3 183381404 183381404 single base substitution C T upstream_gene_variant COCA-CN 3 183396862 183396862 single base substitution T G intron_variant COCA-CN 3 183397008 183397008 single base substitution C A synonymous_variant P579P 1737C>A EOPC-DE 3 183376930 183376930 single base substitution A G intron_variant EOPC-DE 3 183376930 183376930 single base substitution A G upstream_gene_variant ESAD-UK 3 183348614 183348614 deletion of <=200bp A - upstream_gene_variant ESAD-UK 3 183348770 183348770 single base substitution C T upstream_gene_variant ESAD-UK 3 183350292 183350292 single base substitution G C upstream_gene_variant ESAD-UK 3 183351342 183351342 single base substitution T C upstream_gene_variant ESAD-UK 3 183352151 183352151 single base substitution C T upstream_gene_variant ESAD-UK 3 183352671 183352671 single base substitution G A upstream_gene_variant ESAD-UK 3 183355698 183355698 single base substitution C T downstream_gene_variant ESAD-UK 3 183355698 183355698 single base substitution C T intron_variant ESAD-UK 3 183358680 183358680 single base substitution G A downstream_gene_variant ESAD-UK 3 183358680 183358680 single base substitution G A intron_variant ESAD-UK 3 183362874 183362874 single base substitution T G downstream_gene_variant ESAD-UK 3 183362874 183362874 single base substitution T G intron_variant ESAD-UK 3 183366467 183366467 single base substitution G A intron_variant ESAD-UK 3 183366467 183366467 single base substitution G A upstream_gene_variant ESAD-UK 3 183366826 183366826 single base substitution G T intron_variant ESAD-UK 3 183366826 183366826 single base substitution G T upstream_gene_variant ESAD-UK 3 183368022 183368022 single base substitution A G intron_variant ESAD-UK 3 183368022 183368022 single base substitution A G upstream_gene_variant ESAD-UK 3 183369885 183369885 single base substitution C G downstream_gene_variant ESAD-UK 3 183369885 183369885 single base substitution C G intron_variant ESAD-UK 3 183370217 183370217 single base substitution G T downstream_gene_variant ESAD-UK 3 183370217 183370217 single base substitution G T intron_variant ESAD-UK 3 183370894 183370894 single base substitution C A downstream_gene_variant ESAD-UK 3 183370894 183370894 single base substitution C A intron_variant ESAD-UK 3 183371986 183371986 single base substitution C T downstream_gene_variant ESAD-UK 3 183371986 183371986 single base substitution C T intron_variant ESAD-UK 3 183372401 183372401 single base substitution G A downstream_gene_variant ESAD-UK 3 183372401 183372401 single base substitution G A intron_variant ESAD-UK 3 183374840 183374840 single base substitution C T intron_variant ESAD-UK 3 183378071 183378071 single base substitution A T intron_variant ESAD-UK 3 183378071 183378071 single base substitution A T upstream_gene_variant ESAD-UK 3 183378566 183378566 single base substitution C G intron_variant ESAD-UK 3 183378566 183378566 single base substitution C G upstream_gene_variant ESAD-UK 3 183378568 183378568 single base substitution G A intron_variant ESAD-UK 3 183378568 183378568 single base substitution G A upstream_gene_variant ESAD-UK 3 183378763 183378763 single base substitution G A intron_variant ESAD-UK 3 183378763 183378763 single base substitution G A upstream_gene_variant ESAD-UK 3 183380123 183380123 single base substitution A G intron_variant ESAD-UK 3 183380123 183380123 single base substitution A G upstream_gene_variant ESAD-UK 3 183381772 183381772 single base substitution C T intron_variant ESAD-UK 3 183381772 183381772 single base substitution C T upstream_gene_variant ESAD-UK 3 183384348 183384348 single base substitution C A intron_variant ESAD-UK 3 183386167 183386167 single base substitution G A intron_variant ESAD-UK 3 183386683 183386683 deletion of <=200bp A - intron_variant ESAD-UK 3 183389141 183389141 single base substitution T G downstream_gene_variant ESAD-UK 3 183389141 183389141 single base substitution T G intron_variant ESAD-UK 3 183391939 183391939 single base substitution A C downstream_gene_variant ESAD-UK 3 183391939 183391939 single base substitution A C intron_variant ESAD-UK 3 183394892 183394892 single base substitution C T downstream_gene_variant ESAD-UK 3 183394892 183394892 single base substitution C T intron_variant ESAD-UK 3 183396774 183396774 deletion of <=200bp T - intron_variant ESAD-UK 3 183400234 183400234 single base substitution A G 3_prime_UTR_variant ESAD-UK 3 183400234 183400234 single base substitution A G downstream_gene_variant ESAD-UK 3 183400939 183400939 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 183400939 183400939 single base substitution G A downstream_gene_variant ESAD-UK 3 183402598 183402598 single base substitution A T downstream_gene_variant ESAD-UK 3 183403237 183403237 single base substitution A T downstream_gene_variant ESAD-UK 3 183403355 183403355 single base substitution A C downstream_gene_variant ESAD-UK 3 183403962 183403962 insertion of <=200bp - T downstream_gene_variant ESAD-UK 3 183404658 183404658 single base substitution A C downstream_gene_variant ESAD-UK 3 183407065 183407065 single base substitution A T downstream_gene_variant ESCA-CN 3 183368407 183368407 single base substitution G T downstream_gene_variant ESCA-CN 3 183368407 183368407 single base substitution G T intron_variant ESCA-CN 3 183368407 183368407 single base substitution G T missense_variant S88I 263G>T ESCA-CN 3 183368680 183368680 single base substitution C T downstream_gene_variant ESCA-CN 3 183368680 183368680 single base substitution C T intron_variant ESCA-CN 3 183368680 183368680 single base substitution C T missense_variant S179L 536C>T ESCA-CN 3 183368740 183368740 single base substitution C T downstream_gene_variant ESCA-CN 3 183368740 183368740 single base substitution C T intron_variant ESCA-CN 3 183368740 183368740 single base substitution C T missense_variant S199F 596C>T ESCA-CN 3 183368865 183368865 single base substitution G A downstream_gene_variant ESCA-CN 3 183368865 183368865 single base substitution G A intron_variant ESCA-CN 3 183368865 183368865 single base substitution G A missense_variant V241I 721G>A ESCA-CN 3 183388780 183388780 single base substitution G A intron_variant ESCA-CN 3 183400980 183400980 single base substitution A G 3_prime_UTR_variant ESCA-CN 3 183400980 183400980 single base substitution A G downstream_gene_variant KIRC-US 3 183368567 183368567 single base substitution G C downstream_gene_variant KIRC-US 3 183368567 183368567 single base substitution G C intron_variant KIRC-US 3 183368567 183368567 single base substitution G C missense_variant E141D 423G>C KIRC-US 3 183390233 183390233 single base substitution A C downstream_gene_variant KIRC-US 3 183390233 183390233 single base substitution A C exon_variant KIRC-US 3 183390233 183390233 single base substitution A C missense_variant E521D 1563A>C KIRP-US 3 183381404 183381404 single base substitution C A exon_variant KIRP-US 3 183381404 183381404 single base substitution C A missense_variant A360D 1079C>A KIRP-US 3 183381404 183381404 single base substitution C A upstream_gene_variant LICA-CN 3 183368773 183368773 single base substitution A G downstream_gene_variant LICA-CN 3 183368773 183368773 single base substitution A G intron_variant LICA-CN 3 183368773 183368773 single base substitution A G missense_variant D210G 629A>G LICA-FR 3 183356013 183356013 single base substitution A T downstream_gene_variant LICA-FR 3 183356013 183356013 single base substitution A T intron_variant LICA-FR 3 183359336 183359336 single base substitution A G intron_variant LICA-FR 3 183366061 183366061 single base substitution A G intron_variant LICA-FR 3 183366061 183366061 single base substitution A G upstream_gene_variant LICA-FR 3 183372582 183372582 single base substitution G A downstream_gene_variant LICA-FR 3 183372582 183372582 single base substitution G A intron_variant LICA-FR 3 183372844 183372844 single base substitution A G downstream_gene_variant LICA-FR 3 183372844 183372844 single base substitution A G intron_variant LICA-FR 3 183383980 183383981 deletion of <=200bp TT - intron_variant LICA-FR 3 183397814 183397814 single base substitution A G 3_prime_UTR_variant LICA-FR 3 183397814 183397814 single base substitution A G downstream_gene_variant LIHC-US 3 183381339 183381339 single base substitution A T exon_variant LIHC-US 3 183381339 183381339 single base substitution A T synonymous_variant V338V 1014A>T LIHC-US 3 183381339 183381339 single base substitution A T upstream_gene_variant LINC-JP 3 183357490 183357490 insertion of <=200bp - TTTAAT downstream_gene_variant LINC-JP 3 183357490 183357490 insertion of <=200bp - TTTAAT intron_variant LINC-JP 3 183366801 183366801 single base substitution A G intron_variant LINC-JP 3 183366801 183366801 single base substitution A G upstream_gene_variant LINC-JP 3 183367065 183367065 single base substitution A G intron_variant LINC-JP 3 183367065 183367065 single base substitution A G upstream_gene_variant LINC-JP 3 183368153 183368153 single base substitution A G intron_variant LINC-JP 3 183368153 183368153 single base substitution A G synonymous_variant L3L 9A>G LINC-JP 3 183368930 183368930 single base substitution C G downstream_gene_variant LINC-JP 3 183368930 183368930 single base substitution C G intron_variant LINC-JP 3 183368930 183368930 single base substitution C G synonymous_variant P262P 786C>G LINC-JP 3 183377519 183377521 deletion of <=200bp AGA - intron_variant LINC-JP 3 183377519 183377521 deletion of <=200bp AGA - upstream_gene_variant LINC-JP 3 183377755 183377755 deletion of <=200bp T - intron_variant LINC-JP 3 183377755 183377755 deletion of <=200bp T - upstream_gene_variant LINC-JP 3 183382900 183382900 single base substitution T A intron_variant LINC-JP 3 183385372 183385372 single base substitution A G intron_variant LINC-JP 3 183386828 183386828 single base substitution C T intron_variant LIRI-JP 3 183348399 183348399 single base substitution T G upstream_gene_variant LIRI-JP 3 183351116 183351116 single base substitution G C upstream_gene_variant LIRI-JP 3 183351942 183351942 single base substitution A T upstream_gene_variant LIRI-JP 3 183354094 183354094 single base substitution G A 5_prime_UTR_variant LIRI-JP 3 183354094 183354094 single base substitution G A exon_variant LIRI-JP 3 183354094 183354094 single base substitution G A intron_variant LIRI-JP 3 183354094 183354094 single base substitution G A upstream_gene_variant LIRI-JP 3 183355644 183355644 single base substitution A G downstream_gene_variant LIRI-JP 3 183355644 183355644 single base substitution A G intron_variant LIRI-JP 3 183355823 183355823 single base substitution G A downstream_gene_variant LIRI-JP 3 183355823 183355823 single base substitution G A intron_variant LIRI-JP 3 183357864 183357864 insertion of <=200bp - T downstream_gene_variant LIRI-JP 3 183357864 183357864 insertion of <=200bp - T intron_variant LIRI-JP 3 183359908 183359908 single base substitution C G intron_variant LIRI-JP 3 183359953 183359953 single base substitution T G intron_variant LIRI-JP 3 183361209 183361209 single base substitution A G downstream_gene_variant LIRI-JP 3 183361209 183361209 single base substitution A G intron_variant LIRI-JP 3 183361978 183361978 single base substitution C T downstream_gene_variant LIRI-JP 3 183361978 183361978 single base substitution C T intron_variant LIRI-JP 3 183362978 183362978 single base substitution T C downstream_gene_variant LIRI-JP 3 183362978 183362978 single base substitution T C intron_variant LIRI-JP 3 183363671 183363671 single base substitution A G downstream_gene_variant LIRI-JP 3 183363671 183363671 single base substitution A G intron_variant LIRI-JP 3 183363671 183363671 single base substitution A G upstream_gene_variant LIRI-JP 3 183366070 183366070 single base substitution A G intron_variant LIRI-JP 3 183366070 183366070 single base substitution A G upstream_gene_variant LIRI-JP 3 183366805 183366805 single base substitution G C intron_variant LIRI-JP 3 183366805 183366805 single base substitution G C upstream_gene_variant LIRI-JP 3 183366813 183366813 single base substitution G A intron_variant LIRI-JP 3 183366813 183366813 single base substitution G A upstream_gene_variant LIRI-JP 3 183367681 183367681 single base substitution C G intron_variant LIRI-JP 3 183367681 183367681 single base substitution C G upstream_gene_variant LIRI-JP 3 183372400 183372400 single base substitution C T downstream_gene_variant LIRI-JP 3 183372400 183372400 single base substitution C T intron_variant LIRI-JP 3 183375680 183375680 single base substitution A G intron_variant LIRI-JP 3 183375890 183375890 single base substitution A G intron_variant LIRI-JP 3 183379561 183379561 deletion of <=200bp A - intron_variant LIRI-JP 3 183379561 183379561 deletion of <=200bp A - upstream_gene_variant LIRI-JP 3 183381567 183381567 single base substitution G C intron_variant LIRI-JP 3 183381567 183381567 single base substitution G C upstream_gene_variant LIRI-JP 3 183382590 183382590 single base substitution A G intron_variant LIRI-JP 3 183382975 183382975 single base substitution A G intron_variant LIRI-JP 3 183384543 183384543 single base substitution A G intron_variant LIRI-JP 3 183386268 183386268 single base substitution C T intron_variant LIRI-JP 3 183387100 183387100 single base substitution A G intron_variant LIRI-JP 3 183388315 183388315 single base substitution A C intron_variant LIRI-JP 3 183388443 183388443 single base substitution A G intron_variant LIRI-JP 3 183389083 183389083 single base substitution G T downstream_gene_variant LIRI-JP 3 183389083 183389083 single base substitution G T intron_variant LIRI-JP 3 183393144 183393144 single base substitution G T downstream_gene_variant LIRI-JP 3 183393144 183393144 single base substitution G T intron_variant LIRI-JP 3 183393303 183393303 single base substitution T C downstream_gene_variant LIRI-JP 3 183393303 183393303 single base substitution T C intron_variant LIRI-JP 3 183393932 183393932 single base substitution A G downstream_gene_variant LIRI-JP 3 183393932 183393932 single base substitution A G intron_variant LIRI-JP 3 183394380 183394380 single base substitution A T downstream_gene_variant LIRI-JP 3 183394380 183394380 single base substitution A T intron_variant LIRI-JP 3 183395488 183395488 single base substitution T G downstream_gene_variant LIRI-JP 3 183395488 183395488 single base substitution T G intron_variant LIRI-JP 3 183398631 183398631 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 183398631 183398631 single base substitution A G downstream_gene_variant LIRI-JP 3 183399521 183399521 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 183399521 183399521 single base substitution A G downstream_gene_variant LIRI-JP 3 183400661 183400661 single base substitution G A 3_prime_UTR_variant LIRI-JP 3 183400661 183400661 single base substitution G A downstream_gene_variant LIRI-JP 3 183401678 183401678 single base substitution G T 3_prime_UTR_variant LIRI-JP 3 183401678 183401678 single base substitution G T downstream_gene_variant LIRI-JP 3 183404102 183404102 single base substitution A G downstream_gene_variant LIRI-JP 3 183407087 183407087 single base substitution T C downstream_gene_variant LUSC-KR 3 183349611 183349611 single base substitution C A upstream_gene_variant LUSC-KR 3 183353354 183353354 single base substitution T A upstream_gene_variant LUSC-KR 3 183353441 183353441 single base substitution G C 5_prime_UTR_variant LUSC-KR 3 183353441 183353441 single base substitution G C exon_variant LUSC-KR 3 183353441 183353441 single base substitution G C upstream_gene_variant LUSC-KR 3 183353461 183353461 single base substitution G C 5_prime_UTR_variant LUSC-KR 3 183353461 183353461 single base substitution G C exon_variant LUSC-KR 3 183353461 183353461 single base substitution G C upstream_gene_variant LUSC-KR 3 183353531 183353531 single base substitution G T 5_prime_UTR_variant LUSC-KR 3 183353531 183353531 single base substitution G T exon_variant LUSC-KR 3 183353531 183353531 single base substitution G T upstream_gene_variant LUSC-KR 3 183353607 183353607 single base substitution G A intron_variant LUSC-KR 3 183353607 183353607 single base substitution G A upstream_gene_variant LUSC-KR 3 183354615 183354615 single base substitution A T downstream_gene_variant LUSC-KR 3 183354615 183354615 single base substitution A T intron_variant LUSC-KR 3 183354931 183354931 single base substitution G A downstream_gene_variant LUSC-KR 3 183354931 183354931 single base substitution G A intron_variant LUSC-KR 3 183355337 183355337 single base substitution G A downstream_gene_variant LUSC-KR 3 183355337 183355337 single base substitution G A intron_variant LUSC-KR 3 183355726 183355726 single base substitution C T downstream_gene_variant LUSC-KR 3 183355726 183355726 single base substitution C T intron_variant LUSC-KR 3 183355798 183355798 single base substitution G A downstream_gene_variant LUSC-KR 3 183355798 183355798 single base substitution G A intron_variant LUSC-KR 3 183355934 183355934 single base substitution G C downstream_gene_variant LUSC-KR 3 183355934 183355934 single base substitution G C intron_variant LUSC-KR 3 183356027 183356027 single base substitution C G downstream_gene_variant LUSC-KR 3 183356027 183356027 single base substitution C G intron_variant LUSC-KR 3 183357328 183357328 single base substitution G A downstream_gene_variant LUSC-KR 3 183357328 183357328 single base substitution G A intron_variant LUSC-KR 3 183357933 183357933 single base substitution G T downstream_gene_variant LUSC-KR 3 183357933 183357933 single base substitution G T intron_variant LUSC-KR 3 183358433 183358433 single base substitution G T downstream_gene_variant LUSC-KR 3 183358433 183358433 single base substitution G T intron_variant LUSC-KR 3 183364535 183364535 single base substitution G T downstream_gene_variant LUSC-KR 3 183364535 183364535 single base substitution G T intron_variant LUSC-KR 3 183364535 183364535 single base substitution G T upstream_gene_variant LUSC-KR 3 183369570 183369570 single base substitution C T downstream_gene_variant LUSC-KR 3 183369570 183369570 single base substitution C T intron_variant LUSC-KR 3 183369744 183369744 single base substitution G A downstream_gene_variant LUSC-KR 3 183369744 183369744 single base substitution G A intron_variant LUSC-KR 3 183372152 183372152 single base substitution C T downstream_gene_variant LUSC-KR 3 183372152 183372152 single base substitution C T intron_variant LUSC-KR 3 183380388 183380388 single base substitution C T intron_variant LUSC-KR 3 183380388 183380388 single base substitution C T upstream_gene_variant LUSC-KR 3 183381535 183381535 single base substitution G C intron_variant LUSC-KR 3 183381535 183381535 single base substitution G C upstream_gene_variant LUSC-KR 3 183383572 183383572 single base substitution T G intron_variant LUSC-KR 3 183384643 183384643 single base substitution C T intron_variant LUSC-KR 3 183388606 183388606 single base substitution A G intron_variant LUSC-KR 3 183390197 183390197 single base substitution A T downstream_gene_variant LUSC-KR 3 183390197 183390197 single base substitution A T exon_variant LUSC-KR 3 183390197 183390197 single base substitution A T synonymous_variant G509G 1527A>T LUSC-KR 3 183390642 183390642 single base substitution C T 3_prime_UTR_variant LUSC-KR 3 183390642 183390642 single base substitution C T downstream_gene_variant LUSC-KR 3 183390642 183390642 single base substitution C T intron_variant LUSC-KR 3 183392951 183392951 single base substitution A T downstream_gene_variant LUSC-KR 3 183392951 183392951 single base substitution A T intron_variant LUSC-KR 3 183395445 183395445 single base substitution C A downstream_gene_variant LUSC-KR 3 183395445 183395445 single base substitution C A intron_variant LUSC-KR 3 183397878 183397878 single base substitution G C 3_prime_UTR_variant LUSC-KR 3 183397878 183397878 single base substitution G C downstream_gene_variant LUSC-KR 3 183398834 183398834 single base substitution A C 3_prime_UTR_variant LUSC-KR 3 183398834 183398834 single base substitution A C downstream_gene_variant LUSC-KR 3 183400210 183400210 single base substitution T C 3_prime_UTR_variant LUSC-KR 3 183400210 183400210 single base substitution T C downstream_gene_variant LUSC-KR 3 183401702 183401702 single base substitution G C 3_prime_UTR_variant LUSC-KR 3 183401702 183401702 single base substitution G C downstream_gene_variant LUSC-KR 3 183402755 183402755 single base substitution C T downstream_gene_variant LUSC-KR 3 183403865 183403865 single base substitution A T downstream_gene_variant LUSC-KR 3 183403977 183403977 single base substitution G A downstream_gene_variant LUSC-US 3 183368731 183368731 single base substitution A T downstream_gene_variant LUSC-US 3 183368731 183368731 single base substitution A T intron_variant LUSC-US 3 183368731 183368731 single base substitution A T missense_variant E196V 587A>T LUSC-US 3 183368735 183368735 single base substitution T C downstream_gene_variant LUSC-US 3 183368735 183368735 single base substitution T C intron_variant LUSC-US 3 183368735 183368735 single base substitution T C synonymous_variant D197D 591T>C LUSC-US 3 183382716 183382716 single base substitution A G exon_variant LUSC-US 3 183382716 183382716 single base substitution A G synonymous_variant R371R 1113A>G MALY-DE 3 183359624 183359624 single base substitution G A intron_variant MALY-DE 3 183374834 183374834 single base substitution T G intron_variant MALY-DE 3 183379287 183379287 single base substitution C A intron_variant MALY-DE 3 183379287 183379287 single base substitution C A upstream_gene_variant MALY-DE 3 183380014 183380014 single base substitution T A intron_variant MALY-DE 3 183380014 183380014 single base substitution T A upstream_gene_variant MALY-DE 3 183390129 183390129 single base substitution G C downstream_gene_variant MALY-DE 3 183390129 183390129 single base substitution G C exon_variant MALY-DE 3 183390129 183390129 single base substitution G C missense_variant A487P 1459G>C MALY-DE 3 183391532 183391532 single base substitution C T downstream_gene_variant MALY-DE 3 183391532 183391532 single base substitution C T intron_variant MALY-DE 3 183396167 183396167 single base substitution T A intron_variant MALY-DE 3 183396203 183396203 single base substitution T G intron_variant MALY-DE 3 183397953 183397953 single base substitution C T 3_prime_UTR_variant MALY-DE 3 183397953 183397953 single base substitution C T downstream_gene_variant MALY-DE 3 183398153 183398153 single base substitution T C 3_prime_UTR_variant MALY-DE 3 183398153 183398153 single base substitution T C downstream_gene_variant MALY-DE 3 183398389 183398389 single base substitution C T 3_prime_UTR_variant MALY-DE 3 183398389 183398389 single base substitution C T downstream_gene_variant MALY-DE 3 183399337 183399337 single base substitution C G 3_prime_UTR_variant MALY-DE 3 183399337 183399337 single base substitution C G downstream_gene_variant MALY-DE 3 183400369 183400369 single base substitution G A 3_prime_UTR_variant MALY-DE 3 183400369 183400369 single base substitution G A downstream_gene_variant MALY-DE 3 183403207 183403207 single base substitution G A downstream_gene_variant MALY-DE 3 183403325 183403325 single base substitution T G downstream_gene_variant MALY-DE 3 183403962 183403962 single base substitution T A downstream_gene_variant MELA-AU 3 183348469 183348469 single base substitution G A upstream_gene_variant MELA-AU 3 183348509 183348509 single base substitution G A upstream_gene_variant MELA-AU 3 183348641 183348641 single base substitution C T upstream_gene_variant MELA-AU 3 183348759 183348759 single base substitution G A upstream_gene_variant MELA-AU 3 183348829 183348829 single base substitution C T upstream_gene_variant MELA-AU 3 183348855 183348855 single base substitution C T upstream_gene_variant MELA-AU 3 183349017 183349017 single base substitution C T upstream_gene_variant MELA-AU 3 183349181 183349181 single base substitution A C upstream_gene_variant MELA-AU 3 183349509 183349509 single base substitution C T upstream_gene_variant MELA-AU 3 183349646 183349646 single base substitution C T upstream_gene_variant MELA-AU 3 183350028 183350028 single base substitution G A upstream_gene_variant MELA-AU 3 183350050 183350050 single base substitution C T upstream_gene_variant MELA-AU 3 183350488 183350488 single base substitution C T upstream_gene_variant MELA-AU 3 183350925 183350925 single base substitution G A upstream_gene_variant MELA-AU 3 183351450 183351450 single base substitution A G upstream_gene_variant MELA-AU 3 183351571 183351571 single base substitution T A upstream_gene_variant MELA-AU 3 183351709 183351709 single base substitution G A upstream_gene_variant MELA-AU 3 183351990 183351990 single base substitution C T upstream_gene_variant MELA-AU 3 183353299 183353299 single base substitution G A upstream_gene_variant MELA-AU 3 183355539 183355539 single base substitution C T downstream_gene_variant MELA-AU 3 183355539 183355539 single base substitution C T intron_variant MELA-AU 3 183356505 183356505 single base substitution C T downstream_gene_variant MELA-AU 3 183356505 183356505 single base substitution C T intron_variant MELA-AU 3 183357073 183357073 single base substitution A T downstream_gene_variant MELA-AU 3 183357073 183357073 single base substitution A T intron_variant MELA-AU 3 183357490 183357490 insertion of <=200bp - TTTAAT downstream_gene_variant MELA-AU 3 183357490 183357490 insertion of <=200bp - TTTAAT intron_variant MELA-AU 3 183358207 183358207 single base substitution C T downstream_gene_variant MELA-AU 3 183358207 183358207 single base substitution C T intron_variant MELA-AU 3 183358378 183358378 single base substitution T C downstream_gene_variant MELA-AU 3 183358378 183358378 single base substitution T C intron_variant MELA-AU 3 183359353 183359353 single base substitution T G intron_variant MELA-AU 3 183359721 183359721 single base substitution C T intron_variant MELA-AU 3 183361965 183361965 single base substitution C T downstream_gene_variant MELA-AU 3 183361965 183361965 single base substitution C T intron_variant MELA-AU 3 183362200 183362200 single base substitution C T downstream_gene_variant MELA-AU 3 183362200 183362200 single base substitution C T intron_variant MELA-AU 3 183363726 183363726 single base substitution G A downstream_gene_variant MELA-AU 3 183363726 183363726 single base substitution G A intron_variant MELA-AU 3 183363726 183363726 single base substitution G A upstream_gene_variant MELA-AU 3 183364250 183364250 single base substitution C T downstream_gene_variant MELA-AU 3 183364250 183364250 single base substitution C T intron_variant MELA-AU 3 183364250 183364250 single base substitution C T upstream_gene_variant MELA-AU 3 183364329 183364329 single base substitution C T downstream_gene_variant MELA-AU 3 183364329 183364329 single base substitution C T intron_variant MELA-AU 3 183364329 183364329 single base substitution C T upstream_gene_variant MELA-AU 3 183364689 183364689 single base substitution C T downstream_gene_variant MELA-AU 3 183364689 183364689 single base substitution C T intron_variant MELA-AU 3 183364689 183364689 single base substitution C T upstream_gene_variant MELA-AU 3 183364799 183364799 single base substitution C T downstream_gene_variant MELA-AU 3 183364799 183364799 single base substitution C T intron_variant MELA-AU 3 183364799 183364799 single base substitution C T upstream_gene_variant MELA-AU 3 183364866 183364866 single base substitution T C downstream_gene_variant MELA-AU 3 183364866 183364866 single base substitution T C intron_variant MELA-AU 3 183364866 183364866 single base substitution T C upstream_gene_variant MELA-AU 3 183365589 183365589 single base substitution C T downstream_gene_variant MELA-AU 3 183365589 183365589 single base substitution C T intron_variant MELA-AU 3 183365589 183365589 single base substitution C T upstream_gene_variant MELA-AU 3 183365624 183365624 single base substitution C T downstream_gene_variant MELA-AU 3 183365624 183365624 single base substitution C T intron_variant MELA-AU 3 183365624 183365624 single base substitution C T upstream_gene_variant MELA-AU 3 183365677 183365677 single base substitution C T downstream_gene_variant MELA-AU 3 183365677 183365677 single base substitution C T intron_variant MELA-AU 3 183365677 183365677 single base substitution C T upstream_gene_variant MELA-AU 3 183365708 183365708 single base substitution C T downstream_gene_variant MELA-AU 3 183365708 183365708 single base substitution C T intron_variant MELA-AU 3 183365708 183365708 single base substitution C T upstream_gene_variant MELA-AU 3 183365896 183365896 single base substitution A G downstream_gene_variant MELA-AU 3 183365896 183365896 single base substitution A G intron_variant MELA-AU 3 183365896 183365896 single base substitution A G upstream_gene_variant MELA-AU 3 183365967 183365967 single base substitution T C downstream_gene_variant MELA-AU 3 183365967 183365967 single base substitution T C intron_variant MELA-AU 3 183365967 183365967 single base substitution T C upstream_gene_variant MELA-AU 3 183366538 183366538 single base substitution C T intron_variant MELA-AU 3 183366538 183366538 single base substitution C T upstream_gene_variant MELA-AU 3 183366583 183366583 single base substitution A T intron_variant MELA-AU 3 183366583 183366583 single base substitution A T upstream_gene_variant MELA-AU 3 183367024 183367024 single base substitution C T intron_variant MELA-AU 3 183367024 183367024 single base substitution C T upstream_gene_variant MELA-AU 3 183367652 183367652 single base substitution C T intron_variant MELA-AU 3 183367652 183367652 single base substitution C T upstream_gene_variant MELA-AU 3 183368200 183368200 single base substitution C T intron_variant MELA-AU 3 183368200 183368200 single base substitution C T missense_variant S19F 56C>T MELA-AU 3 183368322 183368322 single base substitution C T intron_variant MELA-AU 3 183368322 183368322 single base substitution C T missense_variant R60C 178C>T MELA-AU 3 183368375 183368375 single base substitution T C downstream_gene_variant MELA-AU 3 183368375 183368375 single base substitution T C intron_variant MELA-AU 3 183368375 183368375 single base substitution T C synonymous_variant F77F 231T>C MELA-AU 3 183368863 183368863 single base substitution C T downstream_gene_variant MELA-AU 3 183368863 183368863 single base substitution C T intron_variant MELA-AU 3 183368863 183368863 single base substitution C T missense_variant A240V 719C>T MELA-AU 3 183369531 183369531 single base substitution C T downstream_gene_variant MELA-AU 3 183369531 183369531 single base substitution C T intron_variant MELA-AU 3 183369744 183369744 single base substitution G A downstream_gene_variant MELA-AU 3 183369744 183369744 single base substitution G A intron_variant MELA-AU 3 183369786 183369790 deletion of <=200bp AACAC - downstream_gene_variant MELA-AU 3 183369786 183369790 deletion of <=200bp AACAC - intron_variant MELA-AU 3 183370094 183370094 single base substitution C T downstream_gene_variant MELA-AU 3 183370094 183370094 single base substitution C T intron_variant MELA-AU 3 183370979 183370979 single base substitution T C downstream_gene_variant MELA-AU 3 183370979 183370979 single base substitution T C intron_variant MELA-AU 3 183371461 183371461 single base substitution A T downstream_gene_variant MELA-AU 3 183371461 183371461 single base substitution A T intron_variant MELA-AU 3 183372299 183372299 single base substitution T A downstream_gene_variant MELA-AU 3 183372299 183372299 single base substitution T A intron_variant MELA-AU 3 183373654 183373654 single base substitution G A intron_variant MELA-AU 3 183374137 183374137 single base substitution C T intron_variant MELA-AU 3 183374676 183374676 single base substitution C T intron_variant MELA-AU 3 183374785 183374785 single base substitution C T intron_variant MELA-AU 3 183374797 183374797 single base substitution T A intron_variant MELA-AU 3 183374799 183374800 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 3 183374885 183374885 single base substitution C T intron_variant MELA-AU 3 183375358 183375358 single base substitution C T intron_variant MELA-AU 3 183375367 183375367 single base substitution C T intron_variant MELA-AU 3 183375604 183375604 single base substitution G T intron_variant MELA-AU 3 183376778 183376778 single base substitution G A intron_variant MELA-AU 3 183377152 183377152 single base substitution C T intron_variant MELA-AU 3 183377152 183377152 single base substitution C T upstream_gene_variant MELA-AU 3 183378011 183378011 single base substitution C T intron_variant MELA-AU 3 183378011 183378011 single base substitution C T upstream_gene_variant MELA-AU 3 183378278 183378278 single base substitution C T intron_variant MELA-AU 3 183378278 183378278 single base substitution C T upstream_gene_variant MELA-AU 3 183378562 183378562 single base substitution C T intron_variant MELA-AU 3 183378562 183378562 single base substitution C T upstream_gene_variant MELA-AU 3 183378708 183378708 single base substitution C T intron_variant MELA-AU 3 183378708 183378708 single base substitution C T upstream_gene_variant MELA-AU 3 183378736 183378736 single base substitution C T intron_variant MELA-AU 3 183378736 183378736 single base substitution C T upstream_gene_variant MELA-AU 3 183380791 183380791 single base substitution T G intron_variant MELA-AU 3 183380791 183380791 single base substitution T G upstream_gene_variant MELA-AU 3 183381529 183381529 single base substitution C T intron_variant MELA-AU 3 183381529 183381529 single base substitution C T upstream_gene_variant MELA-AU 3 183382097 183382097 single base substitution G A intron_variant MELA-AU 3 183382275 183382290 deletion of <=200bp TGCAGATTATTATATA - intron_variant MELA-AU 3 183382614 183382614 single base substitution C T intron_variant MELA-AU 3 183383339 183383339 single base substitution C T intron_variant MELA-AU 3 183383557 183383557 deletion of <=200bp A - intron_variant MELA-AU 3 183383932 183383932 single base substitution G A intron_variant MELA-AU 3 183384387 183384387 single base substitution C T intron_variant MELA-AU 3 183384617 183384617 single base substitution G A intron_variant MELA-AU 3 183385700 183385700 single base substitution C T intron_variant MELA-AU 3 183385732 183385732 single base substitution T G intron_variant MELA-AU 3 183385874 183385874 single base substitution G A intron_variant MELA-AU 3 183386101 183386101 single base substitution A G intron_variant MELA-AU 3 183386706 183386706 single base substitution C T intron_variant MELA-AU 3 183386922 183386922 single base substitution A T intron_variant MELA-AU 3 183387055 183387055 single base substitution C T intron_variant MELA-AU 3 183388274 183388274 single base substitution C T intron_variant MELA-AU 3 183388499 183388499 single base substitution G A intron_variant MELA-AU 3 183388745 183388745 single base substitution T A intron_variant MELA-AU 3 183389039 183389039 single base substitution C T downstream_gene_variant MELA-AU 3 183389039 183389039 single base substitution C T intron_variant MELA-AU 3 183389911 183389911 single base substitution T A downstream_gene_variant MELA-AU 3 183389911 183389911 single base substitution T A intron_variant MELA-AU 3 183390254 183390254 single base substitution G A downstream_gene_variant MELA-AU 3 183390254 183390254 single base substitution G A exon_variant MELA-AU 3 183390254 183390254 single base substitution G A synonymous_variant Q528Q 1584G>A MELA-AU 3 183390331 183390331 single base substitution C T 3_prime_UTR_variant MELA-AU 3 183390331 183390331 single base substitution C T downstream_gene_variant MELA-AU 3 183390331 183390331 single base substitution C T intron_variant MELA-AU 3 183390530 183390530 single base substitution C T 3_prime_UTR_variant MELA-AU 3 183390530 183390530 single base substitution C T downstream_gene_variant MELA-AU 3 183390530 183390530 single base substitution C T intron_variant MELA-AU 3 183391131 183391131 single base substitution C T downstream_gene_variant MELA-AU 3 183391131 183391131 single base substitution C T intron_variant MELA-AU 3 183391502 183391502 single base substitution G A downstream_gene_variant MELA-AU 3 183391502 183391502 single base substitution G A intron_variant MELA-AU 3 183391599 183391599 single base substitution C T downstream_gene_variant MELA-AU 3 183391599 183391599 single base substitution C T intron_variant MELA-AU 3 183392091 183392091 single base substitution C T downstream_gene_variant MELA-AU 3 183392091 183392091 single base substitution C T intron_variant MELA-AU 3 183392092 183392092 single base substitution C T downstream_gene_variant MELA-AU 3 183392092 183392092 single base substitution C T intron_variant MELA-AU 3 183392095 183392095 single base substitution T C downstream_gene_variant MELA-AU 3 183392095 183392095 single base substitution T C intron_variant MELA-AU 3 183392099 183392099 single base substitution C T downstream_gene_variant MELA-AU 3 183392099 183392099 single base substitution C T intron_variant MELA-AU 3 183392141 183392141 single base substitution C T downstream_gene_variant MELA-AU 3 183392141 183392141 single base substitution C T intron_variant MELA-AU 3 183392145 183392146 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 183392145 183392146 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 183392171 183392171 single base substitution G A downstream_gene_variant MELA-AU 3 183392171 183392171 single base substitution G A intron_variant MELA-AU 3 183392562 183392562 single base substitution A T downstream_gene_variant MELA-AU 3 183392562 183392562 single base substitution A T intron_variant MELA-AU 3 183392824 183392824 single base substitution C G downstream_gene_variant MELA-AU 3 183392824 183392824 single base substitution C G intron_variant MELA-AU 3 183393038 183393038 single base substitution G A downstream_gene_variant MELA-AU 3 183393038 183393038 single base substitution G A intron_variant MELA-AU 3 183393565 183393565 single base substitution T A downstream_gene_variant MELA-AU 3 183393565 183393565 single base substitution T A intron_variant MELA-AU 3 183394314 183394314 single base substitution T C downstream_gene_variant MELA-AU 3 183394314 183394314 single base substitution T C intron_variant MELA-AU 3 183394392 183394392 single base substitution C T downstream_gene_variant MELA-AU 3 183394392 183394392 single base substitution C T intron_variant MELA-AU 3 183394684 183394684 single base substitution G A downstream_gene_variant MELA-AU 3 183394684 183394684 single base substitution G A intron_variant MELA-AU 3 183395511 183395511 single base substitution C T downstream_gene_variant MELA-AU 3 183395511 183395511 single base substitution C T intron_variant MELA-AU 3 183396084 183396084 single base substitution C T intron_variant MELA-AU 3 183396239 183396239 single base substitution A G intron_variant MELA-AU 3 183396400 183396400 single base substitution C T intron_variant MELA-AU 3 183396772 183396772 single base substitution C T intron_variant MELA-AU 3 183397302 183397302 single base substitution C T 3_prime_UTR_variant MELA-AU 3 183397302 183397302 single base substitution C T downstream_gene_variant MELA-AU 3 183397302 183397303 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 3 183397302 183397303 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 183398115 183398115 single base substitution C T 3_prime_UTR_variant MELA-AU 3 183398115 183398115 single base substitution C T downstream_gene_variant MELA-AU 3 183398285 183398285 single base substitution C T 3_prime_UTR_variant MELA-AU 3 183398285 183398285 single base substitution C T downstream_gene_variant MELA-AU 3 183399085 183399085 single base substitution G A 3_prime_UTR_variant MELA-AU 3 183399085 183399085 single base substitution G A downstream_gene_variant MELA-AU 3 183399640 183399640 single base substitution T G 3_prime_UTR_variant MELA-AU 3 183399640 183399640 single base substitution T G downstream_gene_variant MELA-AU 3 183399907 183399907 single base substitution T A 3_prime_UTR_variant MELA-AU 3 183399907 183399907 single base substitution T A downstream_gene_variant MELA-AU 3 183400124 183400124 single base substitution C T 3_prime_UTR_variant MELA-AU 3 183400124 183400124 single base substitution C T downstream_gene_variant MELA-AU 3 183400217 183400217 single base substitution T G 3_prime_UTR_variant MELA-AU 3 183400217 183400217 single base substitution T G downstream_gene_variant MELA-AU 3 183401240 183401240 single base substitution C G 3_prime_UTR_variant MELA-AU 3 183401240 183401240 single base substitution C G downstream_gene_variant MELA-AU 3 183401369 183401369 single base substitution C T 3_prime_UTR_variant MELA-AU 3 183401369 183401369 single base substitution C T downstream_gene_variant MELA-AU 3 183401447 183401447 single base substitution C T 3_prime_UTR_variant MELA-AU 3 183401447 183401447 single base substitution C T downstream_gene_variant MELA-AU 3 183401908 183401908 single base substitution C T 3_prime_UTR_variant MELA-AU 3 183401908 183401908 single base substitution C T downstream_gene_variant MELA-AU 3 183402580 183402581 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 183403611 183403611 single base substitution C T downstream_gene_variant MELA-AU 3 183403615 183403615 single base substitution C T downstream_gene_variant MELA-AU 3 183403941 183403941 single base substitution C T downstream_gene_variant MELA-AU 3 183404015 183404015 single base substitution G A downstream_gene_variant MELA-AU 3 183404647 183404647 single base substitution G A downstream_gene_variant MELA-AU 3 183404679 183404679 single base substitution T C downstream_gene_variant MELA-AU 3 183404687 183404687 single base substitution C T downstream_gene_variant MELA-AU 3 183405033 183405033 single base substitution C T downstream_gene_variant MELA-AU 3 183406036 183406036 single base substitution G A downstream_gene_variant MELA-AU 3 183406062 183406062 single base substitution C T downstream_gene_variant MELA-AU 3 183406634 183406634 single base substitution C T downstream_gene_variant MELA-AU 3 183407064 183407064 single base substitution T A downstream_gene_variant ORCA-IN 3 183374895 183374895 single base substitution C G intron_variant ORCA-IN 3 183392092 183392092 single base substitution C T downstream_gene_variant ORCA-IN 3 183392092 183392092 single base substitution C T intron_variant ORCA-IN 3 183393314 183393314 single base substitution G A downstream_gene_variant ORCA-IN 3 183393314 183393314 single base substitution G A intron_variant OV-AU 3 183350162 183350162 single base substitution G A upstream_gene_variant OV-AU 3 183356998 183356998 single base substitution A C downstream_gene_variant OV-AU 3 183356998 183356998 single base substitution A C intron_variant OV-AU 3 183357452 183357452 single base substitution G T downstream_gene_variant OV-AU 3 183357452 183357452 single base substitution G T intron_variant OV-AU 3 183357705 183357705 single base substitution C T downstream_gene_variant OV-AU 3 183357705 183357705 single base substitution C T intron_variant OV-AU 3 183360243 183360243 single base substitution G C intron_variant OV-AU 3 183368331 183368331 single base substitution C T downstream_gene_variant OV-AU 3 183368331 183368331 single base substitution C T intron_variant OV-AU 3 183368331 183368331 single base substitution C T missense_variant R63C 187C>T OV-AU 3 183378142 183378142 single base substitution C G intron_variant OV-AU 3 183378142 183378142 single base substitution C G upstream_gene_variant OV-AU 3 183378310 183378310 single base substitution C T intron_variant OV-AU 3 183378310 183378310 single base substitution C T upstream_gene_variant OV-AU 3 183381746 183381746 single base substitution A G intron_variant OV-AU 3 183381746 183381746 single base substitution A G upstream_gene_variant OV-AU 3 183382574 183382574 single base substitution T A intron_variant OV-AU 3 183385599 183385599 single base substitution G A intron_variant OV-AU 3 183385694 183385694 single base substitution T G intron_variant OV-AU 3 183386067 183386067 single base substitution C A intron_variant OV-AU 3 183386100 183386100 single base substitution T C intron_variant OV-AU 3 183387471 183387471 single base substitution G C intron_variant OV-AU 3 183393144 183393144 single base substitution G A downstream_gene_variant OV-AU 3 183393144 183393144 single base substitution G A intron_variant OV-AU 3 183394586 183394586 single base substitution G T downstream_gene_variant OV-AU 3 183394586 183394586 single base substitution G T intron_variant OV-AU 3 183399797 183399797 single base substitution A G 3_prime_UTR_variant OV-AU 3 183399797 183399797 single base substitution A G downstream_gene_variant OV-AU 3 183401936 183401936 single base substitution T C 3_prime_UTR_variant OV-AU 3 183401936 183401936 single base substitution T C downstream_gene_variant OV-AU 3 183405008 183405008 single base substitution A T downstream_gene_variant OV-AU 3 183405019 183405019 single base substitution G A downstream_gene_variant OV-AU 3 183405064 183405064 single base substitution G C downstream_gene_variant OV-US 3 183368847 183368847 single base substitution C T downstream_gene_variant OV-US 3 183368847 183368847 single base substitution C T intron_variant OV-US 3 183368847 183368847 single base substitution C T missense_variant R235C 703C>T PACA-AU 3 183352911 183352911 deletion of <=200bp T - upstream_gene_variant PACA-AU 3 183355369 183355369 deletion of <=200bp G - downstream_gene_variant PACA-AU 3 183355369 183355369 deletion of <=200bp G - intron_variant PACA-AU 3 183356135 183356135 deletion of <=200bp T - downstream_gene_variant PACA-AU 3 183356135 183356135 deletion of <=200bp T - intron_variant PACA-AU 3 183356504 183356504 single base substitution T C downstream_gene_variant PACA-AU 3 183356504 183356504 single base substitution T C intron_variant PACA-AU 3 183360427 183360427 single base substitution C T intron_variant PACA-AU 3 183361915 183361915 single base substitution G A 5_prime_UTR_variant PACA-AU 3 183361915 183361915 single base substitution G A downstream_gene_variant PACA-AU 3 183361915 183361915 single base substitution G A intron_variant PACA-AU 3 183364859 183364859 single base substitution A C downstream_gene_variant PACA-AU 3 183364859 183364859 single base substitution A C intron_variant PACA-AU 3 183364859 183364859 single base substitution A C upstream_gene_variant PACA-AU 3 183365197 183365197 single base substitution C T downstream_gene_variant PACA-AU 3 183365197 183365197 single base substitution C T intron_variant PACA-AU 3 183365197 183365197 single base substitution C T upstream_gene_variant PACA-AU 3 183366760 183366760 single base substitution C T intron_variant PACA-AU 3 183366760 183366760 single base substitution C T upstream_gene_variant PACA-AU 3 183367609 183367611 deletion of <=200bp AGG - intron_variant PACA-AU 3 183367609 183367611 deletion of <=200bp AGG - upstream_gene_variant PACA-AU 3 183371160 183371160 single base substitution G A downstream_gene_variant PACA-AU 3 183371160 183371160 single base substitution G A intron_variant PACA-AU 3 183377909 183377909 single base substitution G A intron_variant PACA-AU 3 183377909 183377909 single base substitution G A upstream_gene_variant PACA-AU 3 183390686 183390686 single base substitution G A 3_prime_UTR_variant PACA-AU 3 183390686 183390686 single base substitution G A downstream_gene_variant PACA-AU 3 183390686 183390686 single base substitution G A intron_variant PACA-AU 3 183401098 183401098 single base substitution C T 3_prime_UTR_variant PACA-AU 3 183401098 183401098 single base substitution C T downstream_gene_variant PACA-AU 3 183402317 183402317 single base substitution C T downstream_gene_variant PACA-CA 3 183356218 183356218 single base substitution A G downstream_gene_variant PACA-CA 3 183356218 183356218 single base substitution A G intron_variant PACA-CA 3 183356684 183356684 single base substitution C G downstream_gene_variant PACA-CA 3 183356684 183356684 single base substitution C G intron_variant PACA-CA 3 183360172 183360173 deletion of <=200bp AT - intron_variant PACA-CA 3 183362604 183362604 single base substitution T C downstream_gene_variant PACA-CA 3 183362604 183362604 single base substitution T C intron_variant PACA-CA 3 183365867 183365867 single base substitution C A downstream_gene_variant PACA-CA 3 183365867 183365867 single base substitution C A intron_variant PACA-CA 3 183365867 183365867 single base substitution C A upstream_gene_variant PACA-CA 3 183366646 183366646 single base substitution C T intron_variant PACA-CA 3 183366646 183366646 single base substitution C T upstream_gene_variant PACA-CA 3 183369607 183369607 single base substitution C T downstream_gene_variant PACA-CA 3 183369607 183369607 single base substitution C T intron_variant PACA-CA 3 183371821 183371821 single base substitution G A downstream_gene_variant PACA-CA 3 183371821 183371821 single base substitution G A intron_variant PACA-CA 3 183375317 183375317 single base substitution A T intron_variant PACA-CA 3 183378810 183378810 single base substitution G A intron_variant PACA-CA 3 183378810 183378810 single base substitution G A upstream_gene_variant PACA-CA 3 183379229 183379229 single base substitution G C intron_variant PACA-CA 3 183379229 183379229 single base substitution G C upstream_gene_variant PACA-CA 3 183381219 183381219 single base substitution T C intron_variant PACA-CA 3 183381219 183381219 single base substitution T C upstream_gene_variant PACA-CA 3 183381908 183381908 insertion of <=200bp - A exon_variant PACA-CA 3 183381908 183381908 insertion of <=200bp - A intron_variant PACA-CA 3 183382509 183382509 single base substitution A G intron_variant PACA-CA 3 183390221 183390221 single base substitution C T downstream_gene_variant PACA-CA 3 183390221 183390221 single base substitution C T exon_variant PACA-CA 3 183390221 183390221 single base substitution C T synonymous_variant Y517Y 1551C>T PACA-CA 3 183390249 183390249 single base substitution G A downstream_gene_variant PACA-CA 3 183390249 183390249 single base substitution G A exon_variant PACA-CA 3 183390249 183390249 single base substitution G A missense_variant V527I 1579G>A PACA-CA 3 183392193 183392193 single base substitution G T downstream_gene_variant PACA-CA 3 183392193 183392193 single base substitution G T intron_variant PACA-CA 3 183392342 183392342 single base substitution G C downstream_gene_variant PACA-CA 3 183392342 183392342 single base substitution G C intron_variant PACA-CA 3 183394713 183394713 single base substitution C T downstream_gene_variant PACA-CA 3 183394713 183394713 single base substitution C T intron_variant PACA-CA 3 183396634 183396634 single base substitution G A intron_variant PACA-CA 3 183396773 183396773 insertion of <=200bp - T intron_variant PACA-CA 3 183397698 183397698 single base substitution T A 3_prime_UTR_variant PACA-CA 3 183397698 183397698 single base substitution T A downstream_gene_variant PACA-CA 3 183398737 183398737 single base substitution T C 3_prime_UTR_variant PACA-CA 3 183398737 183398737 single base substitution T C downstream_gene_variant PACA-CA 3 183402766 183402771 deletion of <=200bp TTTTTC - downstream_gene_variant PACA-CA 3 183404376 183404376 single base substitution A G downstream_gene_variant PACA-CA 3 183405222 183405222 single base substitution T C downstream_gene_variant PAEN-IT 3 183359722 183359722 single base substitution A T intron_variant PAEN-IT 3 183381878 183381878 single base substitution C T intron_variant PAEN-IT 3 183381878 183381878 single base substitution C T upstream_gene_variant PBCA-DE 3 183356236 183356236 insertion of <=200bp - TATTA downstream_gene_variant PBCA-DE 3 183356236 183356236 insertion of <=200bp - TATTA intron_variant PBCA-DE 3 183366250 183366250 single base substitution A T intron_variant PBCA-DE 3 183366250 183366250 single base substitution A T upstream_gene_variant PBCA-DE 3 183367525 183367525 insertion of <=200bp - A intron_variant PBCA-DE 3 183367525 183367525 insertion of <=200bp - A upstream_gene_variant PBCA-DE 3 183383216 183383216 single base substitution C A intron_variant PBCA-DE 3 183383723 183383723 single base substitution G A intron_variant PBCA-DE 3 183387141 183387141 deletion of <=200bp A - intron_variant PBCA-DE 3 183392264 183392264 single base substitution T C downstream_gene_variant PBCA-DE 3 183392264 183392264 single base substitution T C intron_variant PBCA-DE 3 183404095 183404095 single base substitution C T downstream_gene_variant PBCA-DE 3 183405853 183405853 single base substitution G T downstream_gene_variant PRAD-CA 3 183355041 183355041 single base substitution T A downstream_gene_variant PRAD-CA 3 183355041 183355041 single base substitution T A intron_variant PRAD-CA 3 183378143 183378143 single base substitution C T intron_variant PRAD-CA 3 183378143 183378143 single base substitution C T upstream_gene_variant PRAD-CA 3 183402609 183402609 single base substitution C T downstream_gene_variant PRAD-UK 3 183353021 183353021 single base substitution A G upstream_gene_variant PRAD-UK 3 183356055 183356055 single base substitution G C downstream_gene_variant PRAD-UK 3 183356055 183356055 single base substitution G C intron_variant PRAD-UK 3 183357033 183357033 single base substitution T G downstream_gene_variant PRAD-UK 3 183357033 183357033 single base substitution T G intron_variant PRAD-UK 3 183359516 183359516 single base substitution T G intron_variant PRAD-UK 3 183364556 183364567 deletion of <=200bp TTTATGTTATTA - downstream_gene_variant PRAD-UK 3 183364556 183364567 deletion of <=200bp TTTATGTTATTA - intron_variant PRAD-UK 3 183364556 183364567 deletion of <=200bp TTTATGTTATTA - upstream_gene_variant PRAD-UK 3 183377250 183377250 single base substitution G A intron_variant PRAD-UK 3 183377250 183377250 single base substitution G A upstream_gene_variant PRAD-US 3 183368748 183368748 single base substitution G A downstream_gene_variant PRAD-US 3 183368748 183368748 single base substitution G A intron_variant PRAD-US 3 183368748 183368748 single base substitution G A missense_variant E202K 604G>A READ-US 3 183368751 183368751 single base substitution G T downstream_gene_variant READ-US 3 183368751 183368751 single base substitution G T intron_variant READ-US 3 183368751 183368751 single base substitution G T stop_gained E203* 607G>T RECA-EU 3 183352215 183352215 single base substitution C T upstream_gene_variant RECA-EU 3 183373847 183373847 single base substitution T C intron_variant RECA-EU 3 183396911 183396911 single base substitution A G missense_variant Y547C 1640A>G RECA-EU 3 183400131 183400131 single base substitution T A 3_prime_UTR_variant RECA-EU 3 183400131 183400131 single base substitution T A downstream_gene_variant RECA-EU 3 183400266 183400266 single base substitution A T 3_prime_UTR_variant RECA-EU 3 183400266 183400266 single base substitution A T downstream_gene_variant SKCA-BR 3 183348399 183348399 single base substitution T G upstream_gene_variant SKCA-BR 3 183351188 183351188 single base substitution G A upstream_gene_variant SKCA-BR 3 183353328 183353328 single base substitution C T upstream_gene_variant SKCA-BR 3 183353870 183353870 single base substitution T G intron_variant SKCA-BR 3 183353870 183353870 single base substitution T G upstream_gene_variant SKCA-BR 3 183353889 183353889 single base substitution T G intron_variant SKCA-BR 3 183353889 183353889 single base substitution T G upstream_gene_variant SKCA-BR 3 183354273 183354273 single base substitution A G downstream_gene_variant SKCA-BR 3 183354273 183354273 single base substitution A G intron_variant SKCA-BR 3 183354273 183354273 single base substitution A G upstream_gene_variant SKCA-BR 3 183359215 183359215 single base substitution G A downstream_gene_variant SKCA-BR 3 183359215 183359215 single base substitution G A intron_variant SKCA-BR 3 183359303 183359303 single base substitution T C intron_variant SKCA-BR 3 183360605 183360609 deletion of <=200bp GTATT - intron_variant SKCA-BR 3 183360606 183360606 single base substitution T G intron_variant SKCA-BR 3 183361146 183361146 single base substitution C T downstream_gene_variant SKCA-BR 3 183361146 183361146 single base substitution C T intron_variant SKCA-BR 3 183363836 183363836 insertion of <=200bp - TTG downstream_gene_variant SKCA-BR 3 183363836 183363836 insertion of <=200bp - TTG intron_variant SKCA-BR 3 183363836 183363836 insertion of <=200bp - TTG upstream_gene_variant SKCA-BR 3 183363843 183363843 single base substitution G T downstream_gene_variant SKCA-BR 3 183363843 183363843 single base substitution G T intron_variant SKCA-BR 3 183363843 183363843 single base substitution G T upstream_gene_variant SKCA-BR 3 183364116 183364116 single base substitution C A downstream_gene_variant SKCA-BR 3 183364116 183364116 single base substitution C A intron_variant SKCA-BR 3 183364116 183364116 single base substitution C A upstream_gene_variant SKCA-BR 3 183364121 183364121 single base substitution G C downstream_gene_variant SKCA-BR 3 183364121 183364121 single base substitution G C intron_variant SKCA-BR 3 183364121 183364121 single base substitution G C upstream_gene_variant SKCA-BR 3 183364842 183364842 single base substitution A C downstream_gene_variant SKCA-BR 3 183364842 183364842 single base substitution A C intron_variant SKCA-BR 3 183364842 183364842 single base substitution A C upstream_gene_variant SKCA-BR 3 183364895 183364895 single base substitution G A downstream_gene_variant SKCA-BR 3 183364895 183364895 single base substitution G A intron_variant SKCA-BR 3 183364895 183364895 single base substitution G A upstream_gene_variant SKCA-BR 3 183365022 183365022 single base substitution G A downstream_gene_variant SKCA-BR 3 183365022 183365022 single base substitution G A intron_variant SKCA-BR 3 183365022 183365022 single base substitution G A upstream_gene_variant SKCA-BR 3 183367088 183367088 single base substitution C T intron_variant SKCA-BR 3 183367088 183367088 single base substitution C T upstream_gene_variant SKCA-BR 3 183368536 183368536 single base substitution T G downstream_gene_variant SKCA-BR 3 183368536 183368536 single base substitution T G intron_variant SKCA-BR 3 183368536 183368536 single base substitution T G missense_variant I131S 392T>G SKCA-BR 3 183371457 183371457 single base substitution A G downstream_gene_variant SKCA-BR 3 183371457 183371457 single base substitution A G intron_variant SKCA-BR 3 183373847 183373847 insertion of <=200bp - TTTTTTC intron_variant SKCA-BR 3 183374633 183374633 single base substitution G T intron_variant SKCA-BR 3 183374894 183374894 insertion of <=200bp - TGCA intron_variant SKCA-BR 3 183375123 183375123 single base substitution C T intron_variant SKCA-BR 3 183375343 183375343 single base substitution C G intron_variant SKCA-BR 3 183376884 183376884 single base substitution G A intron_variant SKCA-BR 3 183378164 183378164 single base substitution C T intron_variant SKCA-BR 3 183378164 183378164 single base substitution C T upstream_gene_variant SKCA-BR 3 183383314 183383314 single base substitution A G intron_variant SKCA-BR 3 183387230 183387230 single base substitution C T intron_variant SKCA-BR 3 183387779 183387779 single base substitution C T intron_variant SKCA-BR 3 183392031 183392031 insertion of <=200bp - TTTTC downstream_gene_variant SKCA-BR 3 183392031 183392031 insertion of <=200bp - TTTTC intron_variant SKCA-BR 3 183392142 183392142 single base substitution C T downstream_gene_variant SKCA-BR 3 183392142 183392142 single base substitution C T intron_variant SKCA-BR 3 183393243 183393243 single base substitution C T downstream_gene_variant SKCA-BR 3 183393243 183393243 single base substitution C T intron_variant SKCA-BR 3 183395201 183395202 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 3 183395201 183395202 deletion of <=200bp AT - intron_variant SKCA-BR 3 183396722 183396722 single base substitution A C intron_variant SKCA-BR 3 183397112 183397112 single base substitution A T 3_prime_UTR_variant SKCA-BR 3 183397256 183397256 insertion of <=200bp - GA 3_prime_UTR_variant SKCA-BR 3 183399602 183399602 single base substitution G T 3_prime_UTR_variant SKCA-BR 3 183399602 183399602 single base substitution G T downstream_gene_variant SKCA-BR 3 183400640 183400640 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 183400640 183400640 single base substitution G A downstream_gene_variant SKCA-BR 3 183402885 183402885 single base substitution G T downstream_gene_variant SKCA-BR 3 183402892 183402892 single base substitution T C downstream_gene_variant SKCA-BR 3 183403239 183403240 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 3 183403243 183403244 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 3 183403244 183403244 single base substitution T A downstream_gene_variant SKCM-US 3 183368286 183368286 single base substitution C T intron_variant SKCM-US 3 183368286 183368286 single base substitution C T missense_variant H48Y 142C>T SKCM-US 3 183368779 183368779 single base substitution T C downstream_gene_variant SKCM-US 3 183368779 183368779 single base substitution T C intron_variant SKCM-US 3 183368779 183368779 single base substitution T C missense_variant L212P 635T>C SKCM-US 3 183381248 183381248 single base substitution C T missense_variant S308F 923C>T SKCM-US 3 183381248 183381248 single base substitution C T splice_region_variant SKCM-US 3 183381248 183381248 single base substitution C T upstream_gene_variant SKCM-US 3 183381293 183381293 single base substitution G A exon_variant SKCM-US 3 183381293 183381293 single base substitution G A missense_variant R323Q 968G>A SKCM-US 3 183381293 183381293 single base substitution G A upstream_gene_variant SKCM-US 3 183381296 183381296 single base substitution T C exon_variant SKCM-US 3 183381296 183381296 single base substitution T C missense_variant V324A 971T>C SKCM-US 3 183381296 183381296 single base substitution T C upstream_gene_variant SKCM-US 3 183381313 183381313 single base substitution C T exon_variant SKCM-US 3 183381313 183381313 single base substitution C T missense_variant P330S 988C>T SKCM-US 3 183381313 183381313 single base substitution C T upstream_gene_variant SKCM-US 3 183381334 183381334 single base substitution C T exon_variant SKCM-US 3 183381334 183381334 single base substitution C T missense_variant P337S 1009C>T SKCM-US 3 183381334 183381334 single base substitution C T upstream_gene_variant SKCM-US 3 183382805 183382805 single base substitution A C exon_variant SKCM-US 3 183382805 183382805 single base substitution A C missense_variant K401T 1202A>C SKCM-US 3 183390139 183390139 deletion of <=200bp T - downstream_gene_variant SKCM-US 3 183390139 183390139 deletion of <=200bp T - exon_variant SKCM-US 3 183390139 183390139 deletion of <=200bp T - frameshift_variant I490 SKCM-US 3 183390263 183390263 single base substitution C T downstream_gene_variant SKCM-US 3 183390263 183390263 single base substitution C T exon_variant SKCM-US 3 183390263 183390263 single base substitution C T synonymous_variant F531F 1593C>T SKCM-US 3 183396934 183396934 single base substitution A C missense_variant N555H 1663A>C SKCM-US 3 183397024 183397024 single base substitution C T missense_variant H585Y 1753C>T STAD-US 3 183368193 183368193 single base substitution C T intron_variant STAD-US 3 183368193 183368193 single base substitution C T missense_variant R17C 49C>T STAD-US 3 183368270 183368270 single base substitution C A intron_variant STAD-US 3 183368270 183368270 single base substitution C A missense_variant F42L 126C>A STAD-US 3 183368392 183368392 single base substitution T C downstream_gene_variant STAD-US 3 183368392 183368392 single base substitution T C intron_variant STAD-US 3 183368392 183368392 single base substitution T C missense_variant V83A 248T>C STAD-US 3 183368716 183368716 single base substitution C T downstream_gene_variant STAD-US 3 183368716 183368716 single base substitution C T intron_variant STAD-US 3 183368716 183368716 single base substitution C T missense_variant A191V 572C>T STAD-US 3 183368817 183368817 single base substitution A C downstream_gene_variant STAD-US 3 183368817 183368817 single base substitution A C intron_variant STAD-US 3 183368817 183368817 single base substitution A C missense_variant K225Q 673A>C STAD-US 3 183368863 183368863 single base substitution C T downstream_gene_variant STAD-US 3 183368863 183368863 single base substitution C T intron_variant STAD-US 3 183368863 183368863 single base substitution C T missense_variant A240V 719C>T STAD-US 3 183390214 183390214 single base substitution A G downstream_gene_variant STAD-US 3 183390214 183390214 single base substitution A G exon_variant STAD-US 3 183390214 183390214 single base substitution A G missense_variant Y515C 1544A>G STAD-US 3 183396874 183396874 single base substitution G A missense_variant E535K 1603G>A THCA-US 3 183397022 183397022 single base substitution A G missense_variant Y584C 1751A>G UCEC-US 3 183368322 183368322 single base substitution C T intron_variant UCEC-US 3 183368322 183368322 single base substitution C T missense_variant R60C 178C>T UCEC-US 3 183368370 183368370 single base substitution G T downstream_gene_variant UCEC-US 3 183368370 183368370 single base substitution G T intron_variant UCEC-US 3 183368370 183368370 single base substitution G T stop_gained E76* 226G>T UCEC-US 3 183368546 183368546 single base substitution G T downstream_gene_variant UCEC-US 3 183368546 183368546 single base substitution G T intron_variant UCEC-US 3 183368546 183368546 single base substitution G T missense_variant E134D 402G>T UCEC-US 3 183368618 183368618 single base substitution C A downstream_gene_variant UCEC-US 3 183368618 183368618 single base substitution C A intron_variant UCEC-US 3 183368618 183368618 single base substitution C A missense_variant F158L 474C>A UCEC-US 3 183368711 183368711 single base substitution T G downstream_gene_variant UCEC-US 3 183368711 183368711 single base substitution T G intron_variant UCEC-US 3 183368711 183368711 single base substitution T G missense_variant N189K 567T>G UCEC-US 3 183382725 183382725 single base substitution C T exon_variant UCEC-US 3 183382725 183382725 single base substitution C T synonymous_variant S374S 1122C>T UCEC-US 3 183382757 183382757 single base substitution A C exon_variant UCEC-US 3 183382757 183382757 single base substitution A C missense_variant N385T 1154A>C UCEC-US 3 183396927 183396927 single base substitution A G synonymous_variant R552R 1656A>G UCEC-US 3 183396958 183396958 single base substitution C A missense_variant L563I 1687C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-CG-5727-01 COSM4115592 c.126C>A p.F42L Substitution - Missense 3:183650482-183650482 + 3N42-VS-3T42 COSM4981951 c.619C>G p.L207V Substitution - Missense 3:183650975-183650975 + J85_T COSM3945198 c.1527A>T p.G509G Substitution - coding silent 3:183672409-183672409 + TCGA-CU-A3QU-01 COSM3774759 c.734G>A p.R245K Substitution - Missense 3:183651090-183651090 + LUAD-S01356 COSM398225 c.330T>C p.N110N Substitution - coding silent 3:183650686-183650686 + 2492701 COSM5716195 c.1496C>T p.S499F Substitution - Missense 3:183672378-183672378 + 2492702 COSM5716195 c.1496C>T p.S499F Substitution - Missense 3:183672378-183672378 + HCC75T COSM1617253 c.786C>G p.P262P Substitution - coding silent 3:183651142-183651142 + TCGA-D1-A16X-01 COSM1041809 c.474C>A p.F158L Substitution - Missense 3:183650830-183650830 + YUMOBER COSM4696497 c.1236C>T p.V412V Substitution - coding silent 3:183671045-183671045 + PD4199a COSM219625 c.540C>G p.L180L Substitution - coding silent 3:183650896-183650896 + TCGA-BR-A4J2-01 COSM4115595 c.673A>C p.K225Q Substitution - Missense 3:183651029-183651029 + TCGA-D3-A3MV-06 COSM3590538 c.971T>C p.V324A Substitution - Missense 3:183663508-183663508 + TCGA-D5-6530-01 COSM5162850 c.1270G>A p.V424I Substitution - Missense 3:183671079-183671079 + C135 COSM4616302 c.846T>C p.Y282Y Substitution - coding silent 3:183651202-183651202 + CRC-02T COSM3330188 c.1737C>A p.P579P Substitution - coding silent 3:183679220-183679220 + TCGA-BS-A0UV-01 COSM275762 c.178C>T p.R60C Substitution - Missense 3:183650534-183650534 + ESCC_BICR_047T COSM1566539 c.721G>A p.V241I Substitution - Missense 3:183651077-183651077 + TCGA-EE-A29D-06 COSM3590537 c.923C>T p.S308F Substitution - Missense 3:183663460-183663460 + TCGA-ER-A2NG-06 COSM3590535 c.142C>T p.H48Y Substitution - Missense 3:183650498-183650498 + BD57T COSM5509979 c.70C>T p.R24* Substitution - Nonsense 3:183650426-183650426 + T15 COSM5344418 c.1400C>T p.T467I Substitution - Missense 3:183671209-183671209 + cSCCP4 COSM138411 c.37G>A p.D13N Substitution - Missense 3:183650393-183650393 + TCGA-A8-A08F-01 COSM446056 c.1162A>G p.I388V Substitution - Missense 3:183664977-183664977 + TCGA-CD-A4MG-01 COSM4115594 c.572C>T p.A191V Substitution - Missense 3:183650928-183650928 + TCGA-D9-A6EC-06 COSM4400246 c.1663A>C p.N555H Substitution - Missense 3:183679146-183679146 + LUAD_E00522 COSM353196 c.571G>C p.A191P Substitution - Missense 3:183650927-183650927 + T2 COSM5344417 c.901C>T p.P301S Substitution - Missense 3:183651257-183651257 + GC8_T COSM149525 c.72A>T p.R24R Substitution - coding silent 3:183650428-183650428 + HN_62996 COSM124004 c.444T>G p.I148M Substitution - Missense 3:183650800-183650800 + PT37 COSM5918146 c.1413G>A p.K471K Substitution - coding silent 3:183671222-183671222 + 46M COSM5588142 c.576A>T p.L192F Substitution - Missense 3:183650932-183650932 + PCSI0024 COSM302503 c.1579G>A p.V527I Substitution - Missense 3:183672461-183672461 + ccRCC-55 COSM1662508 c.1646T>G p.L549R Substitution - Missense 3:183679129-183679129 + TCGA-A6-6780-01 COSM1421214 c.115delT p.F40fs*74 Deletion - Frameshift 3:183650471-183650471 + T3535 COSM4696499 c.1552G>A p.D518N Substitution - Missense 3:183672434-183672434 + C106 COSM4616302 c.846T>C p.Y282Y Substitution - coding silent 3:183651202-183651202 + TCGA-AM-5820-01 COSM149525 c.72A>T p.R24R Substitution - coding silent 3:183650428-183650428 + T2225 COSM4696496 c.951C>T p.V317V Substitution - coding silent 3:183663488-183663488 + TCGA-HE-A5NK-01 COSM4908431 c.1079C>A p.A360D Substitution - Missense 3:183663616-183663616 + TCGA-AP-A056-01 COSM1041814 c.1687C>A p.L563I Substitution - Missense 3:183679170-183679170 + TCGA-FS-A1Z0-06 COSM3590536 c.635T>C p.L212P Substitution - Missense 3:183650991-183650991 + TCGA-EE-A29M-06 COSM3590540 c.1593C>T p.F531F Substitution - coding silent 3:183672475-183672475 + BD236T COSM5518494 c.697G>A p.V233I Substitution - Missense 3:183651053-183651053 + TCGA-D7-A4YV-01 COSM4115591 c.49C>T p.R17C Substitution - Missense 3:183650405-183650405 + 44_T COSM3945197 c.1521C>T p.A507A Substitution - coding silent 3:183672403-183672403 + TCGA-BR-4369-01 COSM4115597 c.1603G>A p.E535K Substitution - Missense 3:183679086-183679086 + LS174T COSM3330183 c.1649G>A p.G550D Substitution - Missense 3:183679132-183679132 + ESCC-D14 COSM5045421 c.179G>A p.R60H Substitution - Missense 3:183650535-183650535 + TCGA-CK-4951-01 COSM5151695 c.1432G>A p.E478K Substitution - Missense 3:183672314-183672314 + CSCC-27-T COSM4471058 c.1699C>T p.P567S Substitution - Missense 3:183679182-183679182 + BD121T COSM275762 c.178C>T p.R60C Substitution - Missense 3:183650534-183650534 + TCGA-BP-5008-01 COSM479775 c.1409A>T p.D470V Substitution - Missense 3:183671218-183671218 + 3584_T COSM3945196 c.359T>C p.F120S Substitution - Missense 3:183650715-183650715 + TCGA-BR-4188-01 COSM4115594 c.572C>T p.A191V Substitution - Missense 3:183650928-183650928 + BD6T COSM75165 c.703C>T p.R235C Substitution - Missense 3:183651059-183651059 + 2318494 COSM4777262 c.154A>G p.I52V Substitution - Missense 3:183650510-183650510 + TCGA-AA-A02O-01 COSM5125920 c.1603-10G>C p.? Unknown 3:183679076-183679076 + TCGA-BP-4352-01 COSM3365091 c.423G>C p.E141D Substitution - Missense 3:183650779-183650779 + LUAD-5V8LT COSM402400 c.875A>G p.H292R Substitution - Missense 3:183651231-183651231 + TCGA-EE-A2MT-06 COSM3590539 c.988C>T p.P330S Substitution - Missense 3:183663525-183663525 + CSCC-56-T COSM4573142 c.986T>C p.L329P Substitution - Missense 3:183663523-183663523 + 145 COSM3735247 c.449T>C p.V150A Substitution - Missense 3:183650805-183650805 + TCGA-AM-5820-01 COSM3759883 c.747C>T p.H249H Substitution - coding silent 3:183651103-183651103 + TCGA-D1-A17Q-01 COSM1041812 c.1154A>C p.N385T Substitution - Missense 3:183664969-183664969 + T3080 COSM3673902 c.604G>A p.E202K Substitution - Missense 3:183650960-183650960 + S02286 COSM5685365 c.1408G>C p.D470H Substitution - Missense 3:183671217-183671217 + ESO-859 COSM1239276 c.614T>C p.L205P Substitution - Missense 3:183650970-183650970 + SC_9023 COSM5555983 c.222A>C p.G74G Substitution - coding silent 3:183650578-183650578 + T2940 COSM4696494 c.552C>T p.F184F Substitution - coding silent 3:183650908-183650908 + T3058 COSM4696497 c.1236C>T p.V412V Substitution - coding silent 3:183671045-183671045 + TCGA-BR-8360-01 COSM1421215 c.719C>T p.A240V Substitution - Missense 3:183651075-183651075 + TCGA-D1-A163-01 COSM1041811 c.1122C>T p.S374S Substitution - coding silent 3:183664937-183664937 + 587278 COSM1212626 c.324G>C p.E108D Substitution - Missense 3:183650680-183650680 + PCSI_0083_Pa_P_526 COSM3781115 c.1551C>T p.Y517Y Substitution - coding silent 3:183672433-183672433 + TCGA-AA-A02H-01 COSM300703 c.698T>A p.V233D Substitution - Missense 3:183651054-183651054 + 71 COSM4777820 c.1388_1389insC p.D464fs*1 Insertion - Frameshift 3:183671197-183671198 + TCGA-FW-A3R5-06 COSM3915444 c.1009C>T p.P337S Substitution - Missense 3:183663546-183663546 + ESCC_152 COSM5645480 c.1456G>A p.A486T Substitution - Missense 3:183672338-183672338 + TCGA-AP-A056-01 COSM1041808 c.402G>T p.E134D Substitution - Missense 3:183650758-183650758 + 2492703 COSM5716195 c.1496C>T p.S499F Substitution - Missense 3:183672378-183672378 + TCGA-AA-3510-01 COSM1421216 c.1337C>A p.S446Y Substitution - Missense 3:183671146-183671146 + TCGA-CU-A3QU-01 COSM3774758 c.729G>C p.L243L Substitution - coding silent 3:183651085-183651085 + PTC-7C COSM149525 c.72A>T p.R24R Substitution - coding silent 3:183650428-183650428 + AOCS-139-1-5 COSM4149689 c.187C>T p.R63C Substitution - Missense 3:183650543-183650543 + PCSI_0024_Pa_X COSM302503 c.1579G>A p.V527I Substitution - Missense 3:183672461-183672461 + TCGA-CK-4951-01 COSM5151696 c.1532C>T p.T511I Substitution - Missense 3:183672414-183672414 + TCGA-AC-A23H-01 COSM3846845 c.1096C>G p.L366V Substitution - Missense 3:183663633-183663633 + TCGA-AN-A046-01 COSM275762 c.178C>T p.R60C Substitution - Missense 3:183650534-183650534 + PD14465a COSM5787030 c.203T>C p.V68A Substitution - Missense 3:183650559-183650559 + TCGA-A7-A0CH-01 COSM446055 c.479A>C p.E160A Substitution - Missense 3:183650835-183650835 + PCSI_0024_Pa_P COSM302503 c.1579G>A p.V527I Substitution - Missense 3:183672461-183672461 + T3724 COSM4696493 c.357delT p.L121fs*9 Deletion - Frameshift 3:183650713-183650713 + TCGA-AX-A0J0-01 COSM1041813 c.1656A>G p.R552R Substitution - coding silent 3:183679139-183679139 + T2269 COSM4696497 c.1236C>T p.V412V Substitution - coding silent 3:183671045-183671045 + TCGA-24-1562-01 COSM75165 c.703C>T p.R235C Substitution - Missense 3:183651059-183651059 + TCGA-A7-A0DA-01 COSM446057 c.1573A>G p.M525V Substitution - Missense 3:183672455-183672455 + TCGA-F5-6814-01 COSM3427374 c.607G>T p.E203* Substitution - Nonsense 3:183650963-183650963 + T3204 COSM4696492 c.175T>G p.F59V Substitution - Missense 3:183650531-183650531 + PT27 COSM5905552 c.772C>T p.P258S Substitution - Missense 3:183651128-183651128 + sysucc-1397T COSM5474583 c.1079C>T p.A360V Substitution - Missense 3:183663616-183663616 + C0075T COSM4153031 c.1640A>G p.Y547C Substitution - Missense 3:183679123-183679123 + EGC15 COSM5059525 c.735A>G p.R245R Substitution - coding silent 3:183651091-183651091 + Pat_41_B COSM5863995 c.16G>A p.G6R Substitution - Missense 3:183650372-183650372 + TCGA-21-1077-01 COSM729648 c.591T>C p.D197D Substitution - coding silent 3:183650947-183650947 + 587222 COSM1212625 c.230T>G p.F77C Substitution - Missense 3:183650586-183650586 + pfg181T COSM4764061 c.1089T>G p.N363K Substitution - Missense 3:183663626-183663626 + TCGA-AA-A00N-01 COSM275761 c.71G>A p.R24Q Substitution - Missense 3:183650427-183650427 + T276 COSM75165 c.703C>T p.R235C Substitution - Missense 3:183651059-183651059 + TCGA-CW-5585-01 COSM479776 c.1563A>C p.E521D Substitution - Missense 3:183672445-183672445 + ESCC_17 COSM5625979 c.1636A>G p.I546V Substitution - Missense 3:183679119-183679119 + TCGA-F4-6856-01 COSM1421217 c.1596C>T p.S532S Substitution - coding silent 3:183672478-183672478 + 2492700 COSM5716195 c.1496C>T p.S499F Substitution - Missense 3:183672378-183672378 + TCGA-BR-6452-01 COSM4115596 c.1544A>G p.Y515C Substitution - Missense 3:183672426-183672426 + S26_pre COSM5574716 c.293A>T p.D98V Substitution - Missense 3:183650649-183650649 + T3498 COSM4696495 c.686delT p.F230fs*14 Deletion - Frameshift 3:183651042-183651042 + C086 COSM5533467 c.56C>T p.S19F Substitution - Missense 3:183650412-183650412 + PD4199a COSM219625 c.540C>G p.L180L Substitution - coding silent 3:183650896-183650896 + SNUH_G45_S1 COSM3759883 c.747C>T p.H249H Substitution - coding silent 3:183651103-183651103 + T207 COSM4696498 c.1492G>A p.V498I Substitution - Missense 3:183672374-183672374 + TCGA-61-2109-01 COSM118034 c.1779C>G p.Y593* Substitution - Nonsense 3:183679262-183679262 + S00827 COSM312371 c.994A>T p.T332S Substitution - Missense 3:183663531-183663531 + SNUH_G45_S1 COSM149525 c.72A>T p.R24R Substitution - coding silent 3:183650428-183650428 + HCC2998 COSM1670736 c.1297C>T p.R433* Substitution - Nonsense 3:183671106-183671106 + TCGA-18-5595-01 COSM729647 c.1113A>G p.R371R Substitution - coding silent 3:183664928-183664928 + ESCC_BICR_071T COSM5433513 c.596C>T p.S199F Substitution - Missense 3:183650952-183650952 + HCC75 COSM1617253 c.786C>G p.P262P Substitution - coding silent 3:183651142-183651142 + MD-127 COSM302503 c.1579G>A p.V527I Substitution - Missense 3:183672461-183672461 + TCGA-FC-A5OB-01 COSM3673902 c.604G>A p.E202K Substitution - Missense 3:183650960-183650960 + TCGA-AA-A00N-01 COSM275762 c.178C>T p.R60C Substitution - Missense 3:183650534-183650534 + TCGA-D1-A17B-01 COSM1041806 c.60A>G p.P20P Substitution - coding silent 3:183650416-183650416 + TCGA-D3-A5GN-06 COSM3590541 c.1753C>T p.H585Y Substitution - Missense 3:183679236-183679236 + TCGA-AP-A056-01 COSM275762 c.178C>T p.R60C Substitution - Missense 3:183650534-183650534 + YUMUL COSM5398721 c.1567T>A p.Y523N Substitution - Missense 3:183672449-183672449 + ccRCC-11 COSM1662507 c.1178T>A p.L393H Substitution - Missense 3:183664993-183664993 + S00827 COSM312371 c.994A>T p.T332S Substitution - Missense 3:183663531-183663531 + PD4203a COSM162027 c.808G>C p.E270Q Substitution - Missense 3:183651164-183651164 + PCSI_0024_Pa_C COSM302503 c.1579G>A p.V527I Substitution - Missense 3:183672461-183672461 + HCC157 COSM3660369 c.9A>G p.L3L Substitution - coding silent 3:183650365-183650365 + TCGA-AA-3715-01 COSM269465 c.293A>G p.D98G Substitution - Missense 3:183650649-183650649 + HCC157T COSM3660369 c.9A>G p.L3L Substitution - coding silent 3:183650365-183650365 + S00035 COSM5656818 c.399A>G p.T133T Substitution - coding silent 3:183650755-183650755 + SNU-175 COSM3330173 c.1313C>T p.A438V Substitution - Missense 3:183671122-183671122 + ESCC_159 COSM5647138 c.1246G>A p.D416N Substitution - Missense 3:183671055-183671055 + ESO-1594 COSM1255971 c.308G>A p.R103Q Substitution - Missense 3:183650664-183650664 + TCGA-D9-A6EC-06 COSM4403121 c.1202A>C p.K401T Substitution - Missense 3:183665017-183665017 + TCGA-BR-6452-01 COSM4115593 c.248T>C p.V83A Substitution - Missense 3:183650604-183650604 + TCGA-22-4595-01 COSM729649 c.587A>T p.E196V Substitution - Missense 3:183650943-183650943 + TCGA-FS-A1ZK-06 COSM3915443 c.968G>A p.R323Q Substitution - Missense 3:183663505-183663505 + TCGA-QG-A5YW-01 COSM5186190 c.223A>G p.K75E Substitution - Missense 3:183650579-183650579 + TCGA-EM-A2CN-01 COSM3330190 c.1751A>G p.Y584C Substitution - Missense 3:183679234-183679234 + TCGA-AZ-4315-01 COSM1421215 c.719C>T p.A240V Substitution - Missense 3:183651075-183651075 + HCC055T COSM5823926 c.629A>G p.D210G Substitution - Missense 3:183650985-183650985 + ZZUFHECRKL-G018T COSM5435462 c.263G>T p.S88I Substitution - Missense 3:183650619-183650619 + HCC2998 COSM1670736 c.1297C>T p.R433* Substitution - Nonsense 3:183671106-183671106 + 134426 COSM321278 c.1394A>G p.D465G Substitution - Missense 3:183671203-183671203 + TCGA-FD-A3SM-01 COSM3774757 c.393C>T p.I131I Substitution - coding silent 3:183650749-183650749 + S26_post COSM5574716 c.293A>T p.D98V Substitution - Missense 3:183650649-183650649 + TCGA-AA-3666-01 COSM292651 c.1323G>A p.K441K Substitution - coding silent 3:183671132-183671132 + ESCC_BICR_022T COSM5443059 c.536C>T p.S179L Substitution - Missense 3:183650892-183650892 + T39 COSM5344416 c.631G>T p.E211* Substitution - Nonsense 3:183650987-183650987 + TCGA-B5-A0JY-01 COSM1041810 c.567T>G p.N189K Substitution - Missense 3:183650923-183650923 + TCGA-BS-A0UV-01 COSM1041807 c.226G>T p.E76* Substitution - Nonsense 3:183650582-183650582 + LS180 COSM3330183 c.1649G>A p.G550D Substitution - Missense 3:183679132-183679132 + TCGA-G4-6302-01 COSM5174991 c.1651G>A p.G551R Substitution - Missense 3:183679134-183679134 + 587376 COSM1212627 c.564A>C p.K188N Substitution - Missense 3:183650920-183650920 + PCSI_0083_Pa_X COSM3781115 c.1551C>T p.Y517Y Substitution - coding silent 3:183672433-183672433 + TCGA-CU-A3QU-01 COSM3774760 c.859G>A p.E287K Substitution - Missense 3:183651215-183651215 + TCGA-G3-A7M5-01 COSM4941933 c.1014A>T p.V338V Substitution - coding silent 3:183663551-183663551 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.407709 3q27.1 611295

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E160A c.479A>C 3 183368623 BRCA A C Missense p.E521D c.1563A>C 3 183390233 RCCC A G IntronicSNV . c.1602+66A>G 3 183390338 CM A G Missense p.D465G c.1394A>G 3 183388991 SCLC A G Missense p.I293V c.877A>G 3 183369021 HNSC A G Missense p.I388V c.1162A>G 3 183382765 BRCA A G Missense p.M525V c.1573A>G 3 183390243 BRCA A G Missense p.M578V c.1732A>G 3 183397003 LUAD A G Missense p.R100G c.298A>G 3 183368442 HNSC A G Missense p.Y584C c.1751A>G 3 183397022 THCA A G Synonymous p.R371R c.1113A>G 3 183382716 LUSC A T Missense p.E196V c.587A>T 3 183368731 LUSC A T Missense p.R397S c.1191A>T 3 183382794 LUAD A T Missense p.T332S c.994A>T 3 183381319 SCLC C A Missense p.F42L c.126C>A 3 183368270 STAD CC TT Missense p.R152C c.453_454delinsTT 3 183368597 CM C G Missense p.Q200E c.598C>G 3 183368742 CM C G Nonsense p.Y593* c.1779C>G 3 183397050 OV C T Missense p.A191V c.572C>T 3 183368716 STAD C T Missense p.H48Y c.142C>T 3 183368286 CM C T Missense p.P330S c.988C>T 3 183381313 CM C T Missense p.P337L c.1010C>T 3 183381335 CM C T Missense p.R235C c.703C>T 3 183368847 OV C T Synonymous p.F531F c.1593C>T 3 183390263 CM C T Synonymous p.S374S c.1122C>T 3 183382725 UCEC G A Missense p.D428N c.1282G>A 3 183388879 LUAD G A Missense p.E202K c.604G>A 3 183368748 PRAD G A Missense p.E535K c.1603G>A 3 183396874 STAD G A Missense p.R103Q c.308G>A 3 183368452 ESCA G A Missense p.R103Q c.308G>A 3 183368452 HNSC G A Missense p.R17H c.50G>A 3 183368194 HNSC G A Missense p.R24Q c.71G>A 3 183368215 HNSC G A Missense p.R323Q c.968G>A 3 183381293 CM G A Missense p.V241I c.721G>A 3 183368865 HNSC G A Synonymous p.E313E c.939G>A 3 183381264 HNSC G A Synonymous p.K441K c.1323G>A 3 183388920 COREAD G C Missense p.E141D c.423G>C 3 183368567 RCCC G C Missense p.E270Q c.808G>C 3 183368952 BRCA G C Missense p.E341Q c.1021G>C 3 183381346 HNSC G C Missense p.R580T c.1739G>C 3 183397010 STAD G T Missense p.G413C c.1237G>T 3 183388834 CM TACACAG - IntronicDeletion . c.1603-159_1603-153delTACACAG 3 183396715 CM T A Missense p.V233D c.698T>A 3 183368842 COREAD T A Synonymous p.S540S c.1620T>A 3 183396891 LUAD T C Missense p.L205P c.614T>C 3 183368758 ESCA T C Missense p.L212P c.635T>C 3 183368779 CM T C Missense p.V324A c.971T>C 3 183381296 CM T C Synonymous p.D197D c.591T>C 3 183368735 LUSC T - Frameshift p.I490Mfs*6 c.1470delT 3 183390139 CM T G Missense p.I148M c.444T>G 3 183368588 HNSC